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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...
Autores principales: | Lind, Lisbet K, Stecksén-Blicks, Christina, Lejon, Kristina, Schmitt-Egenolf, Marcus |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2006
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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 |
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