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Article

Mutational spectrum of Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2012

Waterham Hans R, Hennekam Raoul C M

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive malformation syndrome characterized by a large spectrum of morphogenic and congenital anomalies. SLOS is caused by mutations in the DHCR7 gene, which encodes 7-dehydrocholesterol reductase, the enzyme that catalyzes the final step in cholesterol biosynthesis. We report on 154 currently known mutations in DHCR7 identified in patients...

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Source

Identifiers

PMID: 23042628
DOI: 10.1002/ajmg.c.31346

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.

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