A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference42 articles.
1. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
2. Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease
3. A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome
4. A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies
5. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome
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1. Sorting Sox: Diverse Roles for Sox Transcription Factors During Neural Crest and Craniofacial Development;Frontiers in Physiology;2020-12-08
2. Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10;Neural Plasticity;2020-08-28
3. De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism;The American Journal of Human Genetics;2019-02
4. A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type�II;Molecular Medicine Reports;2019-01-03
5. Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene;International Journal of Pediatric Otorhinolaryngology;2016-06
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