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 and over 4 years of follow-up data were analysed in two siblings. Microscopic observations of the patients’ hair were conducted. Gene sequencing, three-dimensional structural reconstruction of protein sequences, and in vitro mRNA splicing experiments…
