Condition: Tietz syndrome


rs104893745 in MITF gene and Tietz syndrome PMID 10851256 2000 Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.

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

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

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

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.