Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations-Reference-Cited by-同舟云学术

Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations

Published:2015-12 Issue:2 Volume:574 Page:302-307
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Jalilian Nazanin,Tabatabaiefar Mohammad Amin,Farhadi Mohammad,Bahrami Tayeb,Emamdjomeh Hesam,Noori-Daloii Mohammad Reza

Funder

Tehran University of Medical Sciences

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference33 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. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome;Baldwin;Nature,1992

3. Mutations in PAX3 associated with Waardenburg syndrome type I;Baldwin;Hum. Mutat.,1994

4. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature;Baldwin;Am. J. Med. Genet.,1995

5. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome;Bondurand;Hum. Mol. Genet.,2000

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