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The location ofDCXmutations predicts malformation severity in X-linked lissencephaly

โœ Scribed by Pierre-Louis Leger; Isabelle Souville; Nathalie Boddaert; Caroline Elie; Jean Marc Pinard; Perrine Plouin; Marie Laure Moutard; Vincent des Portes; Hilde Van Esch; Sylvie Joriot; Jean Louis Renard; Jamel Chelly; Fiona Francis; Cherif Beldjord; Nadia Bahi-Buisson


Book ID
106257238
Publisher
Springer
Year
2008
Tongue
English
Weight
257 KB
Volume
9
Category
Article
ISSN
1364-6745

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Radioulnar synostosis, radial ray abnorm
โœ Manouvrier, Sylvie; Moerman, Alexandre; Coeslier, Anne; Devisme, L.; Boute, Odil ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 40 KB ๐Ÿ‘ 2 views

We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, u