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A novel mutation in the MITF gene causes Waardenburg Syndrome Type 2

โœ Scribed by Nicola T. Lautenschlager; Aubrey Milunsky; Anita DeStefano; Lindsay Farrer; Clinton T. Baldwin


Book ID
113409665
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
178 KB
Volume
13
Category
Article
ISSN
1050-3862

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Point mutation in the MITF gene causing
โœ Lalwani, Anil K.; Attaie, Ali; Randolph, Frederick T.; Deshmukh, Dilip; Wang, Cy ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 18 KB ๐Ÿ‘ 2 views

Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS