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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

โœ Scribed by Tassabehji, Mayada; Newton, Valeria E.; Read, Andrew P.


Book ID
109918573
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
509 KB
Volume
8
Category
Article
ISSN
1061-4036

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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