Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II

Author:

Alehabib ElhamORCID,Alinaghi Somayeh,Pourfatemi Fatemeh,Darvish Hossein

Funder

Shahid Beheshti University of Medical Sciences

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference18 articles.

1. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum;Arias;J. Genet. Hum.,1978

2. Heterogeneity in Waardenburg syndrome;Hageman;Am. J. Hum. Genet.,1977

3. Review and update of mutations causing Waardenburg syndrome;Pingault;Hum. Mutat.,2010

4. Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability;Tamayo;Am. J. Med. Genet.,2008

5. Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes;Léger;Eur. J. Hum. Genet.,2012

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