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Article

Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.

BMC medical genetics - 20 Aug 2020

Hettiarachchi D, Panchal Hetalkumar, Lai P S, Dissanayake V H W

Abstract excerpt

BACKGROUND: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutations in NSDHL gene located at Xq28 potentially impair the function of NAD(P) H steroid dehydrogenase-like protein and is responsible for its pathogenesis. CASE PRESENTATION: The proband was a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32819291
DOI: 10.1186/s12881-020-01094-y
PMCID: PMC7439548

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