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

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

Journal of medical genetics - 1 Aug 2004

Witsch-Baumgartner M, Gruber M, Kraft H G, Rossi M, Clayton P, Giros M, Haas D, Kelley R I, Krajewska-Walasek M, Utermann G

Abstract excerpt

BACKGROUND: Smith-Lemli-Opitz syndrome (MIM 270400) is an autosomal recessive malformation and mental retardation syndrome that ranges in clinical severity from minimal dysmorphism and mild mental retardation to severe congenital anomalies and intrauterine death. Smith-Lemli-Opitz syndrome is cau...

Read the complete abstract on PubMed

Topics

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

Share to Analysis of Variance
Share to Cholesterol
Share to Face

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Peptides

Share to Receptors, LDL

Share to Regression Analysis

Share to Smith-Lemli-Opitz Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 15286151
DOI: 10.1136/jmg.2004.018085
PMCID: PMC1735869

Genes

DHCR7
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15286151-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.PMID 15286151Read ↗

Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.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 ↗

Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse.Semantic proximity Read ↗

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

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

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

[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].Semantic proximity Read ↗

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

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

Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.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 ↗

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

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