Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
2019
Rett syndrome(RTT) is an X-linked progressive and severe
neurological disordercaused 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.
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