Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

doi:10.1016/j.ejmg.2011.12.002

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Article

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

European journal of medical genetics - 1 Feb 2012

Quélin Chloé, Loget Philippe, Verloes Alain, Bazin Anne, Bessières Bettina, Laquerrière Annie, Patrier Sophie, Grigorescu Romulus, Encha-Razavi Ferechté, Delahaye Sophie, Jouannic Jean-Marie, Carbonne Bruno, D'Hervé Dominique, Aubry Marie-Cécile, Macé Guillaume, Harvey Thierry, Ville Yves, Viot Geraldine, Joyé Nicole, Odent Sylvie, Attié-Bitach Tania, Wolf Claude, Chevy Françoise, Benlian Pascale, Gonzales Marie

Abstract excerpt

The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 gene. The phenotypic spectrum of SLOS is broad, ranging from a mild phenotype combining subtle...

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Identifiers

PMID: 22226660
DOI: 10.1016/j.ejmg.2011.12.002

Genes

DHCR7

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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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