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  • Title: [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].
    Author: Jing F, Yang D, Chen T, Liang L.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec 10; 33(6):878-882. PubMed ID: 27984627.
    Abstract:
    Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant and male-lethal multi-system disorder characterized by congenital hemidysplasia, strictly lateralized ichthyosiform nevus and ipsilateral limb defects. CHILD syndrome is caused by mutations of nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein (NSDHL) gene mapped to chromosome Xq28. The gene encodes 3β-hydroxylsterol dehydrogenase, which catalyses a step in the cholesterol biosynthetic pathway. This paper has provided a review for recent progress in research on CHILD syndrome including its clinical aspects, pathology, etiology, pathogenesis, differential diagnosis, and treatment, with a particular emphasis on its treatment..
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