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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

Pubmed ID: 
19752159
Year: 
2010
Month: 
Mar
Volume: 
47
Issue: 
3
Citation: 
Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. JOURNAL OF MEDICAL GENETICS 47 (3) : 211 - 6(2010) PubMed