Waardenburg Syndrome and hirschsprung Disease in a child: A case report

Author:

Sah Rajesh Prasad,Bhusal Amrit,Yogi Tek Nath,Niraula Roshan,K.C. Suraj,Yadav Sanjaya Kumar

Publisher

Elsevier BV

Reference20 articles.

1. Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2;Sun;J Hum Genet,2017

2. A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: a case report;Shi;Exp Ther Med,2016

3. Molecular study of three lebanese and syrian patients with Waardenburg Syndrome and report of novel mutations in the EDNRB and MITF genes;Haddad;Mol Syndromol,2011

4. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness;Waardenburg;Am J Hum Genet,1951

5. Waardenburg Shah syndrome: a case report and review of the literature;Egbalian;Iran J Pediatr,2008

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