The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX
According to the American College of Medical Genetics and Genomics guidelines (2015), this mutation is predicted to be pathogenic (PVS1 + PM2 + PP1 + PP3). Funding This work was supported by grants from the National Natural Science Foundation of China (Nos. 81770875 and 81572639), the Science and Te...
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| Published in | Chinese medical journal Vol. 132; no. 19; pp. 2376 - 2377 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
China
Lippincott Williams & Wilkins Ovid Technologies
05.10.2019
Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China Wolters Kluwer Health Wolters Kluwer |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0366-6999 2542-5641 2542-5641 |
| DOI | 10.1097/CM9.0000000000000454 |
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| Abstract | According to the American College of Medical Genetics and Genomics guidelines (2015), this mutation is predicted to be pathogenic (PVS1 + PM2 + PP1 + PP3). Funding This work was supported by grants from the National Natural Science Foundation of China (Nos. 81770875 and 81572639), the Science and Technology Department of Sichuan Province (No. 2018SZ0142), Sichuan University (No. 2018SCUH0093), and the National Clinical Research Center for Geriatrics of West China Hospital (No. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.cmj.org).Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. |
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| AbstractList | According to the American College of Medical Genetics and Genomics guidelines (2015), this mutation is predicted to be pathogenic (PVS1 + PM2 + PP1 + PP3). Funding This work was supported by grants from the National Natural Science Foundation of China (Nos. 81770875 and 81572639), the Science and Technology Department of Sichuan Province (No. 2018SZ0142), Sichuan University (No. 2018SCUH0093), and the National Clinical Research Center for Geriatrics of West China Hospital (No. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.cmj.org).Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. Supplemental Digital Content is available in the text |
| Author | Wan, Shan Zhang, Yi Yu, Xi-Jie Li, Yu-Jue Tang, Meng-Jia Chen, Xiang |
| AuthorAffiliation | Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31567381$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/gim.2015.30 10.1007/s00198-013-2286-9 10.1007/s00223-010-9373-0 10.1016/0002-9343(91)90507-T 10.1210/jc.2012-4133 |
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| Copyright | Copyright © 2019 The Chinese Medical Association, produced by Wolters Kluwer, Inc. under the CC-BY-NC-ND license. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. Copyright © Wanfang Data Co. Ltd. All Rights Reserved. Copyright © 2019 The Chinese Medical Association, produced by Wolters Kluwer, Inc. under the CC-BY-NC-ND license. 2019 |
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| References | Cheung (R2-15-20210129) 2013; 98 Beck-Nielsen (R3-15-20210129) 2013; 24 Reid (R5-15-20210129) 1991; 90 Beck-Nielsen (R4-15-20210129) 2010; 87 Richards (R1-15-20210129) 2015; 17 |
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| SubjectTerms | Bone Density Consent Correspondence Endocrinology Familial Hypophosphatemic Rickets - genetics Fractures Geriatrics Humans Laboratories Male Metabolism Middle Aged Mutation PHEX Phosphate Regulating Neutral Endopeptidase - genetics Research centers Rickets X-rays |
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| Title | The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX |
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