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Article

Smith-Lemli-Opitz syndrome.

Expert reviews in molecular medicine - 22 Jul 2011

DeBarber Andrea E, Eroglu Yasemen, Merkens Louise S, Pappu Anuradha S, Steiner Robert D

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital malformation and intellectual disability syndrome, with clinical characteristics that encompass a wide spectrum and great variability. Elucidation of the biochemical and genetic basis for SLOS, specifically understanding SLOS as a cholesterol deficiency syndrome caused by mutation in DHCR7, opened up enormous possibilities for...

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Source

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Identifiers

PMID: 21777499
DOI: 10.1017/S146239941100189X
PMCID: PMC3366105

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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