CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.

Abstract

Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol… (More)
DOI: 10.1002/ajmg.a.38619

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