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Article

Adrenal function in Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A - 1 Nov 2011

Bianconi Simona E, Conley Sandra K, Keil Meg F, Sinaii Ninet, Rother Kristina I, Porter Forbes D, Stratakis Constantine A

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation syndrome due to mutations of the 7-dehydrocholesterol reductase gene (DHCR7), which leads to a deficiency of cholesterol synthesis and an accumulation of 7-dehydrocholesterol. The SLOS clinical spectrum ranges from multiple major malformations to a mild phenotype with minor anomalies and intellectual disability. Several children with SLOS and adrenal...

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Source

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Identifiers

PMID: 21990131
DOI: 10.1002/ajmg.a.34271
PMCID: PMC3488380

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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