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

Recent insights into the Smith-Lemli-Opitz syndrome.

Clinical genetics - 1 Nov 2005

Yu H, Patel S B

Abstract excerpt

Recent insights into the Smith-Lemli-Opitz syndrome. The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation disorder caused by an inborn error of post-squalene cholesterol biosynthesis. Deficient cholesterol synthesis in SLOS is caused by inherited mutations of 3beta-hydroxysterol-Delta7 reductase gene (DHCR7). DHCR7 deficiency impairs both cholesterol and...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Cholesterol
Share to Genotype

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

Share to Mutation

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Phenotype

Share to Smith-Lemli-Opitz Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 16207203
DOI: 10.1111/j.1399-0004.2005.00515.x
PMCID: PMC1350989

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

Recent insights into the Smith-Lemli-Opitz syndrome.PMID 16207203Read ↗

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

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.Semantic proximity Read ↗

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

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

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

The Smith-Lemli-Opitz syndromeSemantic proximity Read ↗

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

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