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Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome.

作者信息

Rutherford Audrey, Glass Ii Donald A, Agim Nnenna G

机构信息

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas..

出版信息

Dermatol Online J. 2018 Feb 15;24(2):13030/qt0mg507j9.

PMID:29630160
Abstract

Waardenburg Syndrome (WS) is a condition characterized by pigmentary changes of the hair or skin, hearing loss, heterochromia iridis, and dystopia canthorum. There are four main types of WS, which can be commonly caused by mutations in the PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 genes. Herein, we present a patient with Waardenburg Syndrome type 2 with no findings of mutations in the commonly associated genes.

摘要

相似文献

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引用本文的文献

1
Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.一个患有II型瓦登伯格综合征的大家族中MITF基因的移码变异以及C2orf74变异的共分离。
PLoS One. 2021 Feb 11;16(2):e0246607. doi: 10.1371/journal.pone.0246607. eCollection 2021.