A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations

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Bibliographic Details
Published inJournal of the American Academy of Dermatology Vol. 69; no. 1; pp. e29 - e32
Main Authors McDermott, Amelia, Jesus, Adriana Almeida, Liu, Yin, Kim, Peter, Jacks, Jennifer, Montealegre Sanchez, Gina A., Chen, Yongqing, Kannan, Aarthi, Schnebelen, Alicia, Emanuel, Peter D., Shalin, Sara, Hiatt, Kim, Goldbach-Mansky, Raphaela, Gao, Ling
Format Journal Article
LanguageEnglish
Published United States Mosby, Inc 01.07.2013
Subjects
Dermatology
Heterozygote
Humans
Lipodystrophy - genetics
Male
Muscular Atrophy - genetics
Mutation, Missense
Proteasome Endopeptidase Complex - genetics
Skin - pathology
Syndrome
Young Adult
Online AccessGet full text
ISSN0190-9622
1097-6787
1097-6787
DOI10.1016/j.jaad.2013.01.015

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ISSN:0190-9622
1097-6787
1097-6787
DOI:10.1016/j.jaad.2013.01.015