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Journal Article
Neurology, ISSN 0028-3878, 01/2019, Volume 92, Issue 2, pp. e108 - e114
OBJECTIVEWe characterized the epilepsy features and contribution to cognitive regression in 47 patients with MECP2 duplication syndrome (MDS) and reviewed... 
DEFINITION | XLMR | INCLUDING MECP2 | SEIZURES | RETT-SYNDROME | ILAE COMMISSION | GENE DUPLICATION | PHENOTYPE | FEMALES | CLINICAL NEUROLOGY | FEATURES
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 2, pp. 345 - 352
Journal Article
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 10/2005, Volume 42, Issue 10, pp. 780 - 786
Truncating mutations were found in the PHF8 gene ( encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR)... 
MECP2 | XLMR | GENE
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2006, Volume 140A, Issue 7, pp. 727 - 732
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2013, Volume 161, Issue 11, pp. 2697 - 2703
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2006, Volume 140A, Issue 19, pp. 2063 - 2074
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2005, Volume 42, Issue 10, pp. 780 - 786
Journal Article