Article
[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Feb 2009
Li Mei-rong, Pan Hong, Bao Xin-hua, Zhu Xing-wang, Cao Guang-na, Zhang Yu-zhi, Wu Xi-ru
Abstract excerpt
OBJECTIVE: Rett syndrome (RTT) is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. The aim of this study was to investigate the correlation between MECP2 genotype and phenotype and thereby not only to provide assistance for clinical care, but also facilitate clinical genetic counseling. METHOD: Individual phenotype characteristic and clinical...
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