Condition: Mild microcephaly


rs1135401744 in KYNU gene and Mild microcephaly PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs149617956 in MITF gene and Mild microcephaly PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

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

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.