| Autor: |
Gaur, Niti, Tainwala, Ram, Sharma, Y. K. |
| Předmět: |
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| Zdroj: |
Indian Journal of Medical Specialities; Jul2012, Vol. 3 Issue 2, p35-37, 3p, 2 Color Photographs |
| Abstrakt: |
Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare genetic defect associated with disordered development of ectodermal structures. Diagnosis is mainly clinical due to its characteristic features and dental findings. Classical HED is being reported in two siblings, one of whom had alopecia areata of the scalp which responded to topical tacrolimus. Genetic analysis carried out on the two affected siblings showed autosomal recessive inheritance and mutation in ectodysplasin A receptor (EDAR) gene. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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