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

Audrey Rutherford, Donald A. Glass, Nnenna G. Agim

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Article number13
JournalDermatology Online Journal
Volume24
Issue number2
StatePublished - Jan 1 2018

Keywords

  • Dystopia canthorum
  • Hearing loss
  • Heterochromia iridis
  • Nevus depigmentosus
  • Waardenburg syndrome

ASJC Scopus subject areas

  • Dermatology

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