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[Anhydrotic ectodermal dysplasia as cause of recurrent hyperthermia in a 5 month old infant].

作者信息

Neuman-Laniec Magdalena, Wierzba Jolanta, Irga Ninela, Wasilewska Eliza, Balcerska Anna

机构信息

Klinika Pediatrii Hematologii Onkologii i Endokrynologii AM w Gdańsku.

出版信息

Przegl Lek. 2004;61(5):535-7.

Abstract

The X-linked anhydrotic ectodermal dysplasia is a rare disease in which defects in development of ectodermal derivatives are observed. This syndrome is clinically characterized by total or partial anodontia, characteristic physionomy and absent or reduced sweating. Recurrent fever was a clue to the disease diagnosis in 5 month old infant. The diagnosis was confirmed by the mutation of EDA exon 9.

摘要

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