When Rett syndrome is due to genes other than MECP2.

Translational science of rare diseases(2018)

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摘要
Two individuals meeting diagnostic criteria for Rett syndrome (RTT) but lacking a mutation in MECP2CTNNB1WDR45MECP2MECP2
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关键词
CTNNB1,MECP2,Rett syndrome,WDR45,gene panels,whole exome sequencing
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