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Article

A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.

American journal of medical genetics. Part A - 15 Feb 2007

Tarpey Patrick, Pemberton Trevor J, Stockton David W, Das Parimal, Ninis Vasiliki, Edkins Sarah, Andrew Futreal P, Wooster Richard, Kamath Sushanth, Nayak Rabindra, Stratton Michael R, Patel Pragna I

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PMID: 17256800
DOI: 10.1002/ajmg.a.31567

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.PMID 17256800Read ↗

Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X-linked hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

A novel missense mutation in the ectodysplasin-A (EDA) gene underlies X-linked recessive nonsyndromic hypodontia.Semantic proximity Read ↗

Novel Ectodysplasin-A Variants: Structural and Functional Basis of Hypohidrotic Ectodermal DysplasiaSemantic proximity Read ↗

A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Functional analysis of Ectodysplasin-A mutations in X-linked non-syndromic hypodontia and possible involvement of X-chromosome inactivationSemantic proximity Read ↗

Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis.Semantic proximity Read ↗

Functional Analysis of Ectodysplasin-A Mutations in X-Linked Non-Syndromic Hypodontia and Possible Involvement of X-Chromosome InactivationSemantic proximity Read ↗

[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.Semantic proximity Read ↗

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.Semantic proximity Read ↗

Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).Semantic proximity Read ↗

Autosomal dominant amelogenesis imperfecta associated with <i>ENAM</i> frameshift mutation p.Asn36Ilefs56Semantic proximity Read ↗

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