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 |
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| Hauptverfasser: | , |
| Format: | Journal Article |
| Sprache: | Englisch |
| Veröffentlicht: |
Japan
The Genetics Society of Japan
01.08.2023
Japan Science and Technology Agency |
| Schlagworte: | |
| ISSN: | 1341-7568, 1880-5779, 1880-5779 |
| Online-Zugang: | Volltext |
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