Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.

American journal of medical genetics - 22 Apr 2001

Nowaczyk M J, Heshka T, Eng B, Feigenbaum A J, Waye J S

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7). We report on three cousins with SLOS, all of whom were found to be compound heterozygotes for the common splice site mutation IVS8-1G-->C and the missense mutation T289I. DNA analysis of one set of parents demonstrated that the father carried the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Heterozygote
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Oxidoreductases

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Pedigree

Share to RNA Splice Sites

Share to Smith-Lemli-Opitz Syndrome

Source

Identifiers

PMID: 11298379
DOI: 10.1002/ajmg.1227

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.PMID 11298379Read ↗

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with 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 ↗

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common 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 ↗

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

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.Semantic proximity Read ↗

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.