Condition: Speech Disorders


rs149617956 in MITF gene and Speech Disorders PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

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

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

rs1567499068 in SCAPER gene and Speech Disorders PMID 30723319 2019 SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.