X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein (Q24310290)

GOA release 2020-03-11

ectodermal dysplasia

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hypohidrotic ectodermal dysplasia

inferred from title

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J Kere

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Albert de la Chapelle

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object named as

A de la Chapelle

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author name string

A K Srivastava

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O Montonen

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J Zonana

4

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N Thomas

5

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B Ferguson

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F Munoz

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D Morgan

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A Clarke

9

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P Baybayan

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E Y Chen

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S Ezer

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U Saarialho-Kere

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D Schlessinger

https://scigraph.springernature.com/pub.10.1038/ng0895-409

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language of work or name

English

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publication date

August 1996

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published in

Nature Genetics

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volume

13

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issue

4

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page(s)

409-16

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exact match

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cites work

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Clinical Spectrum of Anhidrotic Ectodermal Dysplasia

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Gene effect in carriers of anhidrotic ectodermal dysplasia

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Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12

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Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome)

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X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization

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Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker.

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X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female

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X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female

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Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA).

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Anhidrosis and absence of sweat glands in mice hemizygous for the Tabby gene: supportive evidence for the hypothesis of homology between Tabby and human anhidrotic (hypohidrotic) ectodermal dysplasia (Christ-Siemens-Touraine syndrome).

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Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia

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