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

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.

American journal of medical genetics - 15 Feb 2002

Prasad Chitra, Marles Sandra, Prasad Asuri N, Nikkel Sarah, Longstaffe Sally, Peabody Deborah, Eng Barry, Wright Sarah, Waye John S, Nowaczyk Małgorzata J M

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) (Online Mendelian Inheritance in Man, OMIM, 2001, http://www.ncbi.nlm.nih.gov/omim/ for SLOS, MIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3beta-hydroxysterol Delta(7)-reductase gene, DHCR7. We report on a female infant with an exceptionally mild phenotype of SLOS, in whom molecular studies identified a new mutation in...

Read the complete abstract on PubMed

Topics

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

Share to Cholesterol
Share to DHCR7 gene

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

Share to Infant

Share to Mutation

Share to Oxidoreductases

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Phenotype

Share to Smith-Lemli-Opitz Syndrome

Source

Identifiers

PMID: 11857552
DOI: 10.1002/ajmg.10211

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

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.PMID 11857552Read ↗

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 ↗

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

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

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.Semantic proximity Read ↗

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

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

Mutations in the human DHCR7 gene.Semantic proximity Read ↗

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

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

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