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

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

American journal of medical genetics - 1 Sept 2001

Nowaczyk M J, Nakamura L M, Eng B, Porter F D, Waye J S

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is an inherited multiple malformation syndrome caused by enzymatic deficiency of 3beta-hydroxysterol-Delta(7)-reductase (DHCR7). SLOS is thought to be most common among European Caucasians, with an incidence of 1 in 20,000 to 1 in 30,000 births. To define the carrier rate and ethnic distribution of SLOS, we screened DNA samples from 2,978 unrelated individuals for the most common...

Read the complete abstract on PubMed

Topics

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

Share to Europe
Share to Gene Frequency
Share to Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Mutation

Share to Oxidoreductases

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Smith-Lemli-Opitz Syndrome

Source

Identifiers

PMID: 11503168
DOI: 10.1002/ajmg.1441

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome.PMID 11503168Read ↗

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

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

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

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?Semantic proximity Read ↗

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients 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 ↗

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

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 ↗

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.Semantic proximity Read ↗

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