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Article

Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A - 1 Mar 2004

Nowaczyk Małgorzata J M, Martin-Garcia Diana, Aquino-Perna Angel, Rodriguez-Vazquez Miguel, McCaughey Donna, Eng Barry, Nakamura Lisa M, Waye John S

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive MCA-MR disorder caused by mutations within the 7-dehydrocholesterol reductase gene, DHCR7. The diagnosis is based on the biochemical findings of elevated plasma 7-dehydrocholesterol (7DHC) levels. It is a panethnic condition with variable mutation frequencies in different populations. Ten Cuban patients and four Canadian patients of Mediterranean...

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Source

Identifiers

PMID: 14981719
DOI: 10.1002/ajmg.a.20676

Genes

DHCR7

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.PMID 14981719Read ↗

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.Semantic proximity Read ↗

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 ↗

Mutational spectrum of Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.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 ↗

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.Semantic proximity Read ↗

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

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: new mutation with a mild phenotype.Semantic proximity Read ↗

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.Semantic proximity Read ↗

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

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