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

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" Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome "
Rutherford, Audrey; Glass II, Donald A; Agim, Nnenna G

Document Type	:	AL
Record Number	:	924359
Doc. No	:	LA0mg507j9
Language of Document	:	English
Main Entry	:	Rutherford, Audrey; Glass II, Donald A; Agim, Nnenna G
Title & Author	:	Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome [Article]\ Rutherford, Audrey; Glass II, Donald A; Agim, Nnenna G
Title of Periodical	:	Dermatology Online Journal
Volume/ Issue Number	:	24/2
Date	:	2018
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.