Condition: WAARDENBURG SYNDROME, TYPE IIA


rs104893744 in MITF gene and WAARDENBURG SYNDROME, TYPE IIA PMID 28236341 2017 EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

PMID 8589691 1995 The mutational spectrum in Waardenburg syndrome.

PMID 29407415 2018 Waardenburg syndrome: Novel mutations in a large Brazilian sample.

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

PMID 27473757 2016 Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.

PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 22080950 2011 A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.

PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

rs1555939415 in POLR2F;SOX10 gene and WAARDENBURG SYNDROME, TYPE IIA PMID 29407415 2018 Waardenburg syndrome: Novel mutations in a large Brazilian sample.

rs1555937398 in SOX10;POLR2F gene and WAARDENBURG SYNDROME, TYPE IIA PMID 29407415 2018 Waardenburg syndrome: Novel mutations in a large Brazilian sample.