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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2005-7-20
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pubmed:abstractText |
Hypohidrotic ectodermal dysplasia (HED) is a human heritable disorder characterized by sparse hair, a lack of sweat glands and malformation of teeth. There are X-linked, autosomal recessive and autosomal dominant forms of this disorder. Mutations in the EDA gene cause X-linked HED and mutations in either the EDAR or the EDARADD genes cause autosomal forms of HED.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0007-0963
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
153
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
46-50
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16029325-Adolescent,
pubmed-meshheading:16029325-Base Sequence,
pubmed-meshheading:16029325-DNA Mutational Analysis,
pubmed-meshheading:16029325-Ectodermal Dysplasia,
pubmed-meshheading:16029325-Edar Receptor,
pubmed-meshheading:16029325-Facies,
pubmed-meshheading:16029325-Female,
pubmed-meshheading:16029325-Genes, Recessive,
pubmed-meshheading:16029325-Genotype,
pubmed-meshheading:16029325-Humans,
pubmed-meshheading:16029325-Hypohidrosis,
pubmed-meshheading:16029325-Male,
pubmed-meshheading:16029325-Membrane Proteins,
pubmed-meshheading:16029325-Mutation,
pubmed-meshheading:16029325-Pakistan,
pubmed-meshheading:16029325-Pedigree,
pubmed-meshheading:16029325-Phenotype,
pubmed-meshheading:16029325-Receptors, Ectodysplasin,
pubmed-meshheading:16029325-Receptors, Tumor Necrosis Factor
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pubmed:year |
2005
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pubmed:articleTitle |
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
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pubmed:affiliation |
Department of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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