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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Pubmed ID: 
15492925
Year: 
2004
Month: 
Dec
Volume: 
75
Issue: 
6
Citation: 
Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. American Journal of Human Genetics 75 (6) : 1079 - 93(2004) PubMed