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Article

De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.

American journal of medical genetics. Part A - 1 Aug 2007

Waye John S, Eng Barry, Potter Murray A, Nowaczyk Małgorzata J M, McFadden Deborah, Langlois Sylvie

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Share to Chromosomes, Human, Pair 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17595012
DOI: 10.1002/ajmg.a.31802

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.PMID 17595012Read ↗

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.Semantic proximity Read ↗

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

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

A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.Semantic proximity Read ↗

Mutational spectrum of Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

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

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?Semantic proximity Read ↗

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.Semantic proximity Read ↗

Identification of a novel DHCR7 mutation in a Korean patient with 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 ↗

Mutations in the human DHCR7 gene.Semantic proximity Read ↗

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

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