عنوان
پدید آورنده
موضوع
رده
کتابخانه
محل استقرار
NATIONAL BIBLIOGRAPHY NUMBER
Number
LA0mg507j9
LANGUAGE OF THE ITEM
.Language of Text, Soundtrack etc
انگلیسی
TITLE AND STATEMENT OF RESPONSIBILITY
Title Proper
Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome
General Material Designation
[Article]
First Statement of Responsibility
Rutherford, Audrey; Glass II, Donald A; Agim, Nnenna G
SUMMARY OR ABSTRACT
Text of Note
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.
SET
Date of Publication
2018
Title
Dermatology Online Journal
Volume Number
24/2
PERSONAL NAME - PRIMARY RESPONSIBILITY
Entry Element
Rutherford, Audrey; Glass II, Donald A; Agim, Nnenna G
ELECTRONIC LOCATION AND ACCESS
Electronic name
مطالعه متن کتاب [Article]
275578
a
Y
