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Hypohidrotic ectodermal dysplasia

1 Oct 2008

Abstract excerpt

We report three children with hypohidrotic ectodermal dysplasia (HED), which includes two sisters with unaffected parents (and therefore likely autosomal recessive inheritance of HED) and an unrelated boy. Each patient presented with hypohidrosis, sparse hair, oligodontia with conical teeth, periorbital hyperpigmentation, eczematous dermatitis, and facial features that include frontal bossing, a saddle nose, and...

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PMID: 19061621
DOI: 10.5070/d37021x2gr

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