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Mutations in GJB6 cause hidrotic ectodermal dysplasia

✍ Scribed by Lanneluc, Isabelle; Callouet, Edwige; Laoudj, Dalila; Lemaître, Gilles; Hand, Colette; Hayflick, Susan J.; Zonana, Jonathan; Lamartine, Jérôme; Munhoz Essenfelder, Guilherme; Kibar, Zoha


Book ID
109829066
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
448 KB
Volume
26
Category
Article
ISSN
1061-4036

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New form of hidrotic ectodermal dysplasi
✍ M�garban�, Andr�; Noujeim, Ziad; Fabre, Michel; Der Kaloustian, Vazken M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

We report a sister and brother born to consanguineous parents presenting with severe hypodontia, fine hair, and onychodysplasia. Five other relatives are similarly affected. The comparison with other ectodermal dysplasias is presented and discussed. The possibility of a new autosomal recessive form