Condition: Waardenburg Syndrome


rs1553704814 in MITF gene and Waardenburg Syndrome PMID 22258527 2012 Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

PMID 29115496 2018 Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

PMID 24194866 2013 Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

PMID 27889061 2016 Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

PMID 23787126 2013 MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

PMID 20485200 2010 Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells.

PMID 29094203 2017 Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.

PMID 27073475 2016 A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.

PMID 20478267 2010 Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.

PMID 8589691 1995 The mutational spectrum in Waardenburg syndrome.

PMID 29531335 2018 Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.

PMID 26781036 2016 Clinical and genetic investigation of families with type II Waardenburg syndrome.

rs876657717 in PAX3 gene and Waardenburg Syndrome PMID 26512583 2015 Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.

PMID 9654197 1998 Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

PMID 1349198 1992 Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

rs1553572967 in PAX3;LOC107985991 gene and Waardenburg Syndrome PMID 8589691 1995 The mutational spectrum in Waardenburg syndrome.

PMID 9017978 1997 Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1.

PMID 8533800 1995 Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.