A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism

Ectodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male c...

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Vydáno v:	Genes & Genetic Systems s. 22-00138
Hlavní autoři:	Rencuzogullari, Eyyup, Ezer, Banu Guven
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	The Genetics Society of Japan 2023
Témata:	anhidrotic ectodermal dysplasia EDARADD MnII restriction endonuclease new mutation
ISSN:	1341-7568, 1880-5779
On-line přístup:	Získat plný text
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