Associated Papers
Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.
Yamamoto K et al.
Pigment Cell & Melanoma Research, 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
MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.
Li W et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
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
MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.
Thongpradit S et al.
Scientific Reports, 2020
Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.
Yang S et al.
Plos One, 2013
Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.
Zhang H et al.
Febs Letters, 2012
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
Léger S et al.
European Journal of Human Genetics : Ejhg, 2012
Select a paper to view details