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CHARGE syndrome and CHD7 gene mutation

✍ Scribed by A. de Arriba Muñoz; L. Monge Galindo; J. López Pisón; M. Lafuente Hidalgo; R. Pérez Delgado; M. Domínguez Cajal; V. Rebage

Book ID
119649214
Publisher
Elsevier
Year
2011
Tongue
English
Weight
92 KB
Volume
26
Category
Article
ISSN
2173-5808

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Familial CHARGE syndrome and the CHD7 ge
Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
✍ Marjolijn C.J. Jongmans; Lies H. Hoefsloot; Kim P. van der Donk; Ronald J. Admir 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 224 KB 👁 2 views

## Abstract CHARGE syndrome is an autosomal dominant condition that is caused by mutations in the __CHD7__ gene. Few familial cases of this syndrome have been reported and these were characterized by a wide clinical variability. We here report on five __CHD7__ mutation positive families and comment