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Article

DHCR7 and Smith-Lemli-Opitz syndrome.

Clinical and investigative medicine. Medecine clinique et experimentale - 1 Dec 2001

Nowaczyk M J, Nakamura L M, Waye J S

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Source

Identifiers

PMID: 11767235

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome and the DHCR7 gene.Semantic proximity Read ↗

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DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

[Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].Semantic proximity Read ↗

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