Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
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DOI: 10.1038/s41439-019-0078-2
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… read more here.
Keywords: variants mecp2; rett syndrome; insertion deletion; deletion variants ... See more keywords