Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
✍ Scribed by Bienvenu, Thierry ;des Portes, Vincent ;McDonell, Nathalie ;Carri�, Alain ;Zemni, Ramzi ;Couvert, Philippe ;Ropers, Hilger H. ;Moraine, Claude ;van Bokhoven, Hans ;Fryns, Jean Pierre ;Allen, Kristina ;Walsh, Christopher A. ;Bou�, Joelle ;Kahn, Axel ;Chelly, Jamel ;Beldjord, Cherif
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 154 KB
- Volume
- 93
- Category
- Article
- ISSN
- 0148-7299
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We describe a large family with nonspecific X-linked mental retardation (MRX 47). An X-linked recessive transmission is suggested by the inheritance from the mothers in two generations of a moderate to severe form of mental retardation in six males, without any specific clinical findings. Two point
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