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Article

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

Human mutation - 1 Apr 2005

Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley R I, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G

Abstract excerpt

The Smith-Lemli-Opitz syndrome (SLOS) is a phenotypically variable metabolic malformation and mental retardation syndrome for which more than 80 mutations in the DHCR7 disease-causing gene have been described. The DHCR7 mutational spectra differ significantly in different areas of Europe, and several common putative founder mutations account for a substantial fraction of all mutations in some ethnic groups. Here...

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Identifiers

PMID: 15776424
DOI: 10.1002/humu.9328

Genes

DHCR7

Variants

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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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Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.PMID 15776424Read ↗

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