Source:http://linkedlifedata.com/resource/pubmed/id/20628232
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2011-4-18
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pubmed:abstractText |
X-linked recessive hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is a rare genodermatosis characterized clinically by developmental abnormalities affecting the teeth, hair and sweat glands. Mutations in the EDA-A1 gene have been associated with XLHED. Recently, mutations in the EDA-A1 gene have also been implicated in isolated X-linked recessive hypodontia (XLRH; OMIM 313500).
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
1421-9832
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
221
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
243-7
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pubmed:dateRevised |
2011-10-3
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pubmed:meshHeading |
pubmed-meshheading:20628232-Anodontia,
pubmed-meshheading:20628232-DNA Mutational Analysis,
pubmed-meshheading:20628232-Ectodermal Dysplasia 1, Anhidrotic,
pubmed-meshheading:20628232-Ectodysplasins,
pubmed-meshheading:20628232-Female,
pubmed-meshheading:20628232-Haplotypes,
pubmed-meshheading:20628232-Humans,
pubmed-meshheading:20628232-Male,
pubmed-meshheading:20628232-Microsatellite Repeats,
pubmed-meshheading:20628232-Mutation, Missense
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pubmed:year |
2010
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pubmed:articleTitle |
A common founder mutation in the EDA-A1 gene in X-linked hypodontia.
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pubmed:affiliation |
Department of Dermatology, Columbia University, New York, N.Y., USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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