Article
A Familial 4q12 Deletion Involving KIT Gene Causes Piebaldism.
Acta dermatovenerologica Croatica : ADC - 1 Aug 2020
Arasimavičius Justas, Dilytė Evelina, Utkus Algirdas, Preikšaitienė Eglė
Abstract excerpt
Piebaldism is a rare, autosomal dominant disorder characterized by the congenital absence of melanocytes in affected areas of the skin and hair. We report on a familial 4q12 deletion that involves the KIT gene and causes piebaldism in affected individuals. Whole-genome genotyping analysis of the proband using HumanCytoSNP-12v2.1 BeadChips (Illumina Inc., San Diego, CA, USA, revealed a 1.34-Mb microduplication of...
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