Novel pathogenic variants in KIT gene in three Chinese piebaldism patients
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DOI: 10.3389/fmed.2022.1040747
Abstract: Background Piebaldism is a rare autosomal dominant disease, and roughly 75% patients had KIT gene mutations. Up to date, approximately 90 KIT mutations causing piebaldism were reported. Methods To identify KIT gene mutations in three… read more here.
Keywords: pathogenic variants; novel pathogenic; piebaldism; piebaldism patients ... See more keywords