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EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked to mutations in the ectodysplasin 1 anhidrotic rec...

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Main Authors: Lind, Lisbet K, Stecksén-Blicks, Christina, Lejon, Kristina, Schmitt-Egenolf, Marcus
格式: Artigo
語言:Inglês
出版: BioMed Central 2006
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684249/
https://ncbi.nlm.nih.gov/pubmed/17125505
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-7-80
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