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Article

Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation.

American journal of medical genetics. Part A - 15 May 2008

Feller Liviu, Wood Neil H, Sluiter Michelle D, Noffke Claudia, Raubenheimer Erich J, Lemmer Johan, van Rensburg Elizabeth J

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Source

Identifiers

PMID: 18412120
DOI: 10.1002/ajmg.a.32272

Genes

GJA1

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation.PMID 18412120Read ↗

A novel GJA 1 mutation in oculodentodigital dysplasia with extensive loss of enamelSemantic proximity Read ↗

Gene symbol: GJA1. Disease: oculodentodigital dysplasia.Semantic proximity Read ↗

Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations.Semantic proximity Read ↗

Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.Semantic proximity Read ↗

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.Semantic proximity Read ↗

A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.Semantic proximity Read ↗

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).Semantic proximity Read ↗

[A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].Semantic proximity Read ↗

Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.Semantic proximity Read ↗

A Novel Mutation in the GJA1 Gene in a Family With Oculodentodigital DysplasiaSemantic proximity Read ↗

Otosclerosis and TGF-beta 1 gene in black South Africans.Semantic proximity Read ↗

Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling.Semantic proximity Read ↗

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