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Article

Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.

Journal of child neurology - 1 Nov 2007

Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang, Ki Chang-Seok, Kim Jong-Won

Abstract excerpt

Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz syndrome. The Lys376ArgfsX37 mutation is a novel mutation, and...

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Source

Identifiers

PMID: 18006960
DOI: 10.1177/0883073807307099

Genes

DHCR7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.PMID 18006960Read ↗

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Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome and the DHCR7 gene.Semantic proximity Read ↗

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.Semantic proximity Read ↗

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.Semantic proximity Read ↗

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A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.Semantic proximity Read ↗

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