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Article

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

American journal of medical genetics - 15 Sept 2001

Nowaczyk M J, Farrell S A, Sirkin W L, Velsher L, Krakowiak P A, Waye J S, Porter F D

Abstract excerpt

Smith-Lemli-Opitz syndrome (RHS) (SLOS, OMIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3beta-hydroxysterol Delta(7)-Delta(8)-reductase gene, DHCR7. We report a fetus with holoprosencephaly and multiple congenital anomalies who was homozygous for the IVS8-1G-->C mutation. Following termination of pregnancy, both the elevated amniotic fluid...

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Source

Identifiers

PMID: 11562938
DOI: 10.1002/1096-8628(20010915)103:1<75::aid-ajmg1502>3.0.co;2-r

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.

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