XY (SRY-positive) Ovarian Disorder of Sex Development in Cattle
In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subject...
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| Published in | Sexual development Vol. 12; no. 4; pp. 196 - 203 |
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| Main Authors | , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Basel, Switzerland
01.01.2018
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1661-5425 1661-5433 1661-5433 |
| DOI | 10.1159/000489869 |
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| Abstract | In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subjects with 2 X chromosomes, an alternative pathway induces the development of ovaries, hence a female phenotype. In this case study, we describe a female cattle affected by a disorder of sex development (DSD). The subject, despite having a chromosomal XY constitution, did not develop testicles but ovaries, although they were underdeveloped. Moreover, genetic analysis highlighted the presence of the SRY gene with a normal coding region in both blood- and tissue-derived DNA. A chimeric condition was excluded in blood by sexing more than 350 cells and by allele profile investigation of 18 microsatellite markers. Array CGH analysis showed the presence of a not yet described 99-kb duplication (BTA18), but its relationship with the phenotype remains to be demonstrated. Gonadal histology demonstrated paired ovaries: the left one containing a large corpus luteum and the right one showing an underdeveloped aspect and very few early follicles. To our knowledge, we describe the first case of XY (SRY+) DSD in cattle with a normal SRY gene coding sequence. |
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| AbstractList | In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subjects with 2 X chromosomes, an alternative pathway induces the development of ovaries, hence a female phenotype. In this case study, we describe a female cattle affected by a disorder of sex development (DSD). The subject, despite having a chromosomal XY constitution, did not develop testicles but ovaries, although they were underdeveloped. Moreover, genetic analysis highlighted the presence of the SRY gene with a normal coding region in both blood- and tissue-derived DNA. A chimeric condition was excluded in blood by sexing more than 350 cells and by allele profile investigation of 18 microsatellite markers. Array CGH analysis showed the presence of a not yet described 99-kb duplication (BTA18), but its relationship with the phenotype remains to be demonstrated. Gonadal histology demonstrated paired ovaries: the left one containing a large corpus luteum and the right one showing an underdeveloped aspect and very few early follicles. To our knowledge, we describe the first case of XY (SRY+) DSD in cattle with a normal SRY gene coding sequence. In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subjects with 2 X chromosomes, an alternative pathway induces the development of ovaries, hence a female phenotype. In this case study, we describe a female cattle affected by a disorder of sex development (DSD). The subject, despite having a chromosomal XY constitution, did not develop testicles but ovaries, although they were underdeveloped. Moreover, genetic analysis highlighted the presence of the SRY gene with a normal coding region in both blood- and tissue-derived DNA. A chimeric condition was excluded in blood by sexing more than 350 cells and by allele profile investigation of 18 microsatellite markers. Array CGH analysis showed the presence of a not yet described 99-kb duplication (BTA18), but its relationship with the phenotype remains to be demonstrated. Gonadal histology demonstrated paired ovaries: the left one containing a large corpus luteum and the right one showing an underdeveloped aspect and very few early follicles. To our knowledge, we describe the first case of XY (SRY+) DSD in cattle with a normal SRY gene coding sequence.In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subjects with 2 X chromosomes, an alternative pathway induces the development of ovaries, hence a female phenotype. In this case study, we describe a female cattle affected by a disorder of sex development (DSD). The subject, despite having a chromosomal XY constitution, did not develop testicles but ovaries, although they were underdeveloped. Moreover, genetic analysis highlighted the presence of the SRY gene with a normal coding region in both blood- and tissue-derived DNA. A chimeric condition was excluded in blood by sexing more than 350 cells and by allele profile investigation of 18 microsatellite markers. Array CGH analysis showed the presence of a not yet described 99-kb duplication (BTA18), but its relationship with the phenotype remains to be demonstrated. Gonadal histology demonstrated paired ovaries: the left one containing a large corpus luteum and the right one showing an underdeveloped aspect and very few early follicles. To our knowledge, we describe the first case of XY (SRY+) DSD in cattle with a normal SRY gene coding sequence. |
| Author | Grignani, Pierangela Rossi, Elena Arrighi, Silvana Previderè, Carlo Cremonesi, Fausto Parma, Pietro Bonacina, Stefania De Lorenzi, Lisa |
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| Cites_doi | 10.1038/372525a0 10.1051/gse:2001132 10.1159/000134508 10.1210/jc.2007-2155 10.1159/000473781 10.1186/1471-2164-11-284 10.1136/jmedgenet-2014-102864 10.1007/s10577-012-9315-y 10.1007/BF00426080 10.1159/000444065 10.1093/hmg/ddu074 10.1016/j.meatsci.2007.04.029 10.1159/000452637 10.4081/ijas.2009.s2.102 10.1292/jvms.54.1077 10.1101/gr.105403.110 10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B 10.1186/1471-2156-8-77 10.1159/000134182 10.1038/346240a0 10.1038/9629 10.1016/S0002-9297(07)62958-9 10.1093/hmg/ddy037 10.1086/302017 10.1159/000448361 10.1038/ng0894-497 10.1016/j.ajhg.2010.11.003 10.1016/j.ajhg.2009.03.016 10.1016/j.ajhg.2011.06.009 |
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| Issue | 4 |
| Keywords | Histology Microsatellite marker SRY XY constitution Cattle |
| Language | English |
| License | Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. https://www.karger.com/Services/SiteLicenses 2018 S. Karger AG, Basel. |
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| References | Fluck CE, Meyer-Boni M, Pandey AV, Kempna P, Miller WL, et al: Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Am J Hum Genet 89:201-218 (2011).2180206410.1016/j.ajhg.2011.06.009 Longeri M, Parma P, Polli M, Cozzi M C, Valiati P, et al: Genetic screening of the inherited Ichtyosis causative mutation in Chianina cattle. Ital J Anim Sci 8:102-104 (2009).10.4081/ijas.2009.s2.102 Kondoh S, Miyake Y, Nakahori Y, Nakagome Y, Kaneda Y: Cytogenetical and molecular biological studies on a bovine XY female. J Vet Med Sci 54:1077-1080 (1992).147715610.1292/jvms.54.1077 Biason-Lauber A, Konrad D, Meyer M, deBeaufort C, Schoenle EJ: Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet 84:658-663 (2009).1936178010.1016/j.ajhg.2009.03.016 Nguyen TT, Genini S, Bui LC, Voegeli P, Stranzinger G, et al: Genomic conservation of cattle microsatellite loci in wild gaur (Bos gaurus) and current genetic status of this species in Vietnam. BMC Genet 8:77 (2007).1798632210.1186/1471-2156-8-77 Ballin NZ, Madsen KG: Sex determination in beef by melting curve analysis of PCR amplicons from the amelogenin locus. Meat Sci 77:384-388 (2007).2206179110.1016/j.meatsci.2007.04.029 Fadista J, Thomsen B, Holm LE, Bendixen C: Copy number variation in the bovine genome. BMC Genomics 11:284 (2010).2045959810.1186/1471-2164-11-284 Guioli S, Schmitt K, Critcher R, Bouzyk M, Spurr NK, et al: Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome. Am J Hum Genet 63:905-908 (1998).971834710.1086/302017 Hook EB: Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 29:94-97 (1977).835578 McPherson MJ: PCR 1: A Practical Approach (IRL Press, Oxford 1991). Kawakura K, Miyake Y, Murakami RK, Kondoh S, Hirata TI, Kaneda Y: Abnormal structure of the Y chromosome detected in bovine gonadal hypoplasia (XY female) by FISH. Cytogenet Cell Genet 76:36-38 (1997).915412110.1159/000134508 Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, et al: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-244 (1990).169571210.1038/346240a0 Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL: A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22:125-126 (1999).1036924710.1038/9629 Hare JE, Baird JD, Duignan P, Saunders J, Floetenmeyer R, Basrur PK: XY gonadal dysgenesis and tetralogy of Fallot in an angus calf. Can Vet J 35:510-512 (1994).7954226 Payen EJ, Cotinot CY: Sequence evolution of SRY gene within Bovidae family. Mamm Genome 5:723-725 (1994).787388310.1007/BF00426080 Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, et al: Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies. Hum Mol Genet 27:1228-1240 (2018).2937375710.1093/hmg/ddy037 Bashamboo A, McElreavey K: Mechanism of sex determination in humans: insights from disorders of sex development. Sex Dev 10:313-325 (2016).2791533010.1159/000452637 Liu GE, Hou Y, Zhu B, Cardone MF, Jiang L, et al: Analysis of copy number variations among diverse cattle breeds. Genome Res 20: 693-703 (2010).2021202110.1101/gr.105403.110 Kim GJ, Sock E, Buchberger A, Just W, Denzer F, et al: Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. J Med Genet 52:240-247 (2015).2560408310.1136/jmedgenet-2014-102864 Kawakura K, Miyake YI, Murakami RK, Kondoh S, Hirata TI, Kaneda Y: Deletion of the Sry region on the Y chromosome detected in bovine gonadal hypoplasia (XY female) by PCR. Cytogenet Cell Genet 72: 183-184 (1996).897876910.1159/000134182 De Lorenzi L, Genualdo V, Gimelli S, Rossi E, Perucatti A, et al: Genomic analysis of cattle rob(1;29). Chromosome Res 20:815-823 (2012).2305357110.1007/s10577-012-9315-y Windley SP, Wilhelm D: Signaling pathways involved in mammalian sex determination and gonad development. Sex Dev 9:297-315 (2015).2690573110.1159/000444065 Bashamboo A, Brauner R, Bignon-Topalovic J, Lortat-Jacob S, Karageorgou V, et al: Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. Hum Mol Genet 23:3657-3665 (2014).2454903910.1093/hmg/ddu074 De Grouchy J, Roubin M, Passage E: Microtechnic for the study of human chromosomes from a human leukocyte culture. Ann Genet 7:45 (1964).14242108 Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, et al: Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet 87:898-904 (2010).2112972210.1016/j.ajhg.2010.11.003 Umehara F, Tate G, Itoh K, Yamaguchi N, Douchi T, et al: A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. Am J Hum Genet 67:1302-1305 (2000).1101780510.1016/S0002-9297(07)62958-9 Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, et al: A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7:497-501 (1994).795131910.1038/ng0894-497 Dumic M, Lin-Su K, Leibel NI, Ciglar S, Vinci G, et al: Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. J Clin Endocr Metab 93:182-189 (2008).1800009610.1210/jc.2007-2155 Foster JW, Dominguez-Steglich M, Guioli S, Kwok C, Weller PA, et al: Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-530 (1994).799092410.1038/372525a0 De Lorenzi L, Iannuzzi A, Rossi E, Bonacina S, Parma P: Centromere repositioning in cattle (Bos taurus) chromosome 17. Cytogenet Genome Res 151:191-197 (2017).2849443910.1159/000473781 Eggen A, Gautier M, Billaut A, Petit E, Hayes H, et al: Construction and characterization of a bovine BAC library with four genome-equivalent coverage. Genet Sel Evol 33:543-548 (2001).1171297410.1051/gse:2001132 McElreavey K, Fellous M: Sex determination and the Y chromosome. Am J Med Genet 89:176-185 (1999).1072799310.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B Parma P, Veyrunes F, Pailhoux E: Sex reversal in non-human placental mammals. Sex Dev 10:326-344 (2016).2752972110.1159/000448361 ref13 ref12 ref15 ref14 ref11 ref10 ref2 ref1 ref17 ref16 ref19 ref18 ref24 ref23 ref26 ref25 ref20 ref22 ref21 ref28 ref27 ref29 ref8 ref7 ref9 ref4 ref3 ref6 ref5 |
| References_xml | – reference: Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, et al: Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies. Hum Mol Genet 27:1228-1240 (2018).2937375710.1093/hmg/ddy037 – reference: Fluck CE, Meyer-Boni M, Pandey AV, Kempna P, Miller WL, et al: Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Am J Hum Genet 89:201-218 (2011).2180206410.1016/j.ajhg.2011.06.009 – reference: Eggen A, Gautier M, Billaut A, Petit E, Hayes H, et al: Construction and characterization of a bovine BAC library with four genome-equivalent coverage. Genet Sel Evol 33:543-548 (2001).1171297410.1051/gse:2001132 – reference: Parma P, Veyrunes F, Pailhoux E: Sex reversal in non-human placental mammals. Sex Dev 10:326-344 (2016).2752972110.1159/000448361 – reference: Longeri M, Parma P, Polli M, Cozzi M C, Valiati P, et al: Genetic screening of the inherited Ichtyosis causative mutation in Chianina cattle. Ital J Anim Sci 8:102-104 (2009).10.4081/ijas.2009.s2.102 – reference: Hare JE, Baird JD, Duignan P, Saunders J, Floetenmeyer R, Basrur PK: XY gonadal dysgenesis and tetralogy of Fallot in an angus calf. Can Vet J 35:510-512 (1994).7954226 – reference: Fadista J, Thomsen B, Holm LE, Bendixen C: Copy number variation in the bovine genome. BMC Genomics 11:284 (2010).2045959810.1186/1471-2164-11-284 – reference: McPherson MJ: PCR 1: A Practical Approach (IRL Press, Oxford 1991). – reference: Windley SP, Wilhelm D: Signaling pathways involved in mammalian sex determination and gonad development. Sex Dev 9:297-315 (2015).2690573110.1159/000444065 – reference: Guioli S, Schmitt K, Critcher R, Bouzyk M, Spurr NK, et al: Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome. Am J Hum Genet 63:905-908 (1998).971834710.1086/302017 – reference: De Lorenzi L, Iannuzzi A, Rossi E, Bonacina S, Parma P: Centromere repositioning in cattle (Bos taurus) chromosome 17. Cytogenet Genome Res 151:191-197 (2017).2849443910.1159/000473781 – reference: Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, et al: A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7:497-501 (1994).795131910.1038/ng0894-497 – reference: De Grouchy J, Roubin M, Passage E: Microtechnic for the study of human chromosomes from a human leukocyte culture. Ann Genet 7:45 (1964).14242108 – reference: McElreavey K, Fellous M: Sex determination and the Y chromosome. Am J Med Genet 89:176-185 (1999).1072799310.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B – reference: Bashamboo A, Brauner R, Bignon-Topalovic J, Lortat-Jacob S, Karageorgou V, et al: Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. Hum Mol Genet 23:3657-3665 (2014).2454903910.1093/hmg/ddu074 – reference: Umehara F, Tate G, Itoh K, Yamaguchi N, Douchi T, et al: A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. Am J Hum Genet 67:1302-1305 (2000).1101780510.1016/S0002-9297(07)62958-9 – reference: De Lorenzi L, Genualdo V, Gimelli S, Rossi E, Perucatti A, et al: Genomic analysis of cattle rob(1;29). Chromosome Res 20:815-823 (2012).2305357110.1007/s10577-012-9315-y – reference: Foster JW, Dominguez-Steglich M, Guioli S, Kwok C, Weller PA, et al: Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-530 (1994).799092410.1038/372525a0 – reference: Kawakura K, Miyake YI, Murakami RK, Kondoh S, Hirata TI, Kaneda Y: Deletion of the Sry region on the Y chromosome detected in bovine gonadal hypoplasia (XY female) by PCR. Cytogenet Cell Genet 72: 183-184 (1996).897876910.1159/000134182 – reference: Kondoh S, Miyake Y, Nakahori Y, Nakagome Y, Kaneda Y: Cytogenetical and molecular biological studies on a bovine XY female. J Vet Med Sci 54:1077-1080 (1992).147715610.1292/jvms.54.1077 – reference: Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, et al: Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet 87:898-904 (2010).2112972210.1016/j.ajhg.2010.11.003 – reference: Biason-Lauber A, Konrad D, Meyer M, deBeaufort C, Schoenle EJ: Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet 84:658-663 (2009).1936178010.1016/j.ajhg.2009.03.016 – reference: Liu GE, Hou Y, Zhu B, Cardone MF, Jiang L, et al: Analysis of copy number variations among diverse cattle breeds. Genome Res 20: 693-703 (2010).2021202110.1101/gr.105403.110 – reference: Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, et al: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-244 (1990).169571210.1038/346240a0 – reference: Ballin NZ, Madsen KG: Sex determination in beef by melting curve analysis of PCR amplicons from the amelogenin locus. Meat Sci 77:384-388 (2007).2206179110.1016/j.meatsci.2007.04.029 – reference: Nguyen TT, Genini S, Bui LC, Voegeli P, Stranzinger G, et al: Genomic conservation of cattle microsatellite loci in wild gaur (Bos gaurus) and current genetic status of this species in Vietnam. BMC Genet 8:77 (2007).1798632210.1186/1471-2156-8-77 – reference: Dumic M, Lin-Su K, Leibel NI, Ciglar S, Vinci G, et al: Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. J Clin Endocr Metab 93:182-189 (2008).1800009610.1210/jc.2007-2155 – reference: Kim GJ, Sock E, Buchberger A, Just W, Denzer F, et al: Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. J Med Genet 52:240-247 (2015).2560408310.1136/jmedgenet-2014-102864 – reference: Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL: A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22:125-126 (1999).1036924710.1038/9629 – reference: Bashamboo A, McElreavey K: Mechanism of sex determination in humans: insights from disorders of sex development. Sex Dev 10:313-325 (2016).2791533010.1159/000452637 – reference: Kawakura K, Miyake Y, Murakami RK, Kondoh S, Hirata TI, Kaneda Y: Abnormal structure of the Y chromosome detected in bovine gonadal hypoplasia (XY female) by FISH. Cytogenet Cell Genet 76:36-38 (1997).915412110.1159/000134508 – reference: Hook EB: Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 29:94-97 (1977).835578 – reference: Payen EJ, Cotinot CY: Sequence evolution of SRY gene within Bovidae family. Mamm Genome 5:723-725 (1994).787388310.1007/BF00426080 – ident: ref13 doi: 10.1038/372525a0 – ident: ref10 doi: 10.1051/gse:2001132 – ident: ref16 doi: 10.1159/000134508 – ident: ref9 doi: 10.1210/jc.2007-2155 – ident: ref8 doi: 10.1159/000473781 – ident: ref11 doi: 10.1186/1471-2164-11-284 – ident: ref17 doi: 10.1136/jmedgenet-2014-102864 – ident: ref7 doi: 10.1007/s10577-012-9315-y – ident: ref24 doi: 10.1007/BF00426080 – ident: ref29 doi: 10.1159/000444065 – ident: ref5 doi: 10.1093/hmg/ddu074 – ident: ref2 doi: 10.1016/j.meatsci.2007.04.029 – ident: ref4 doi: 10.1159/000452637 – ident: ref20 doi: 10.4081/ijas.2009.s2.102 – ident: ref18 doi: 10.1292/jvms.54.1077 – ident: ref19 doi: 10.1101/gr.105403.110 – ident: ref21 doi: 10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B – ident: ref22 doi: 10.1186/1471-2156-8-77 – ident: ref15 doi: 10.1159/000134182 – ident: ref27 doi: 10.1038/346240a0 – ident: ref1 doi: 10.1038/9629 – ident: ref28 doi: 10.1016/S0002-9297(07)62958-9 – ident: ref26 doi: 10.1093/hmg/ddy037 – ident: ref14 doi: 10.1086/302017 – ident: ref23 doi: 10.1159/000448361 – ident: ref3 doi: 10.1038/ng0894-497 – ident: ref25 doi: 10.1016/j.ajhg.2010.11.003 – ident: ref6 doi: 10.1016/j.ajhg.2009.03.016 – ident: ref12 doi: 10.1016/j.ajhg.2011.06.009 |
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| Title | XY (SRY-positive) Ovarian Disorder of Sex Development in Cattle |
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