Abstract
Abstract
Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertion/deletion variants, and 31 known pathogenic variants in MECP2. The pathogenic variants presented here should be a useful resource for examining the correlation between the genotypes and phenotypes of RTT.
Funder
Japan Agency for Medical Research and Development
the Intramural Research Grant (27-6) for Neurological and Psychiatric Disorders of NCNP
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Cited by
2 articles.
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