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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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Detalles Bibliográficos
Autores principales: Lind, Lisbet K, Stecksén-Blicks, Christina, Lejon, Kristina, Schmitt-Egenolf, Marcus
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684249/
https://www.ncbi.nlm.nih.gov/pubmed/17125505
http://dx.doi.org/10.1186/1471-2350-7-80