Clinical and Genetic Functional Validation of a Novel AP1S1 Mutation Causing MEDNIK Syndrome
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DOI: 10.1155/ijog/4385128
Abstract: Background: MEDNIK syndrome is a rare copper metabolism disorder caused by AP1S1 variants. Herein, we report the clinical and genetic characteristics of MEDNIK syndrome in two siblings. Methods: The clinical treatment process for MEDNIK syndrome… read more here.
Keywords: genetic functional; mednik syndrome; clinical genetic; ap1s1 mutation ... See more keywords