Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia
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Tarih
2015
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Soc Argentina Pediatria
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye disorders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C>T; p.T378M in EDA gene.
Açıklama
Anahtar Kelimeler
Ectodermal Dysplasia, X-Linked Hypohidrotic Ectodermal Dysplasia, Eda, C.1133c > T, P.T378m
Kaynak
Archivos Argentinos De Pediatria
WoS Q Değeri
Q4
Scopus Q Değeri
Cilt
113
Sayı
6
