EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families |
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| Authors: | Lisbet K Lind Christina Stecksén-Blicks Kristina Lejon Marcus Schmitt-Egenolf |
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| Affiliation: | (1) Department of Medical Biosciences, Medical and Clinical Genetics, Ume? University, SE-901 85 Ume?, Sweden;(2) Department of Odontology, Pediatric Dentistry, Ume? University, SE-901 85 Ume?, Sweden;(3) Department of Public Health and Clinical Medicine, Dermatology and Venereology, Ume? University, SE-901 85 Ume?, Sweden |
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| Abstract: | 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 receptor (EDAR) protein that plays an important role during embryogenesis. |
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