Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review
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DOI: 10.1002/mgg3.2121
Abstract: Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X‐linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase‐like protein) gene. It primarily exhibits strictly unilateral congenital… read more here.
Keywords: gene; identification recurrent; male; male fatality ... See more keywords