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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Veröffentlicht in:Genes & Genetic Systems Jg. 98; H. 4; S. 171 - 178
Hauptverfasser: Rencuzogullari, Eyyup, Ezer, Banu Guven
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Japan The Genetics Society of Japan 01.08.2023
Japan Science and Technology Agency
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ISSN:1341-7568, 1880-5779, 1880-5779
Online-Zugang:Volltext
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