Article
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.
Molecular genetics & genomic medicine - 1 Mar 2023
Zhuang Jianlong, Luo Qi, Xie Meihua, Chen Yu'e, Jiang Yuying, Zeng Shuhong, Wang Yuanbai, Xie Yingjun, Chen Chunnuan
Abstract excerpt
BACKGROUND: 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 hemidysplasia with ichthyosiform erythroderma and ipsilateral limb defects in female individuals. METHODS: A Chinese couple suffering...
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