Associated Papers
Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.
Zheng Z et al.
The Application of Clinical Genetics, 2024
Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.
Wang J et al.
Molecular Genetics & Genomic Medicine, 2021
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
Zardadi S et al.
Bmc Pediatrics, 2021
MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.
Yu R et al.
Biomed Research International, 2021
A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.
Yang S et al.
Molecular Genetics & Genomic Medicine, 2020
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
George A et al.
American Journal of Human Genetics, 2016
Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.
Yang S et al.
Plos One, 2013
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