Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy

PURPOSE: Waardenburg syndrome (WS) is characterized by sensorineural hearing loss and pigmentation defects of the eye, skin, and hair. It is caused by mutations in one of the following genes: PAX3 (paired box 3), MITF (microphthalmia-associated transcription factor), EDNRB (endothelin receptor type...

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Autors principals: Kapoor, Saketh, Bindu, Parayil Sankaran, Taly, Arun B., Sinha, Sanjib, Gayathri, Narayanappa, Rani, S. Vasantha, Chandak, Giriraj Ratan, Kumar, Arun
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2012
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3413420/
https://ncbi.nlm.nih.gov/pubmed/22876130
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