Novel Mutation in the <i>HSD17B10</i> Gene Accompanied by Dysmorphic Findings in Female Patients
Kismet Ciki,
Ceren Alavanda,
Murat Kara
Abstract:<b><i>Introduction:</i></b> Hydroxysteroid 17-beta dehydrogenase type 10 (HSD10) protein is a mitochondrial enzyme. Multisystemic involvement occurs in HSD10 deficiency as in other mitochondrial diseases. HSD10 deficiency (disease) is rare. Less than 40 index cases have been reported so far. A female patient is even rarer because of X-linked transmission. Five index female cases have been reported. <b><i>Case Presentation:</i></b> We report a three-year-old femal… Show more
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