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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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Hlavní autoři: Lind, Lisbet K, Stecksén-Blicks, Christina, Lejon, Kristina, Schmitt-Egenolf, Marcus
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2006
Témata:
On-line přístup: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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