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

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

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 journal › Article › peer-review

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 language	English (US)
Article number	13
Journal	Dermatology online journal
Volume	24
Issue number	2
State	Published - 2018

Keywords

Dystopia canthorum
Hearing loss
Heterochromia iridis
Nevus depigmentosus
Waardenburg syndrome

ASJC Scopus subject areas

Dermatology

Cite this

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title = "Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome",

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.",

keywords = "Dystopia canthorum, Hearing loss, Heterochromia iridis, Nevus depigmentosus, Waardenburg syndrome",

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AB - 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.

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KW - Hearing loss

KW - Heterochromia iridis

KW - Nevus depigmentosus

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

Abstract

Keywords

ASJC Scopus subject areas

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