雷特综合征
MECP2
遗传学
表观遗传学
外显子组测序
表型
生物
基因
生物信息学
作者
Friederike Ehrhart,Nasim Bahram Sangani,Leopold Curfs
标识
DOI:10.1097/yco.0000000000000389
摘要
We conclude that the Rett syndrome phenotype has a much broader underlying genetic cause and the typical phenotype overlap with other genetic disorders. For proper genetic counselling, patient perspective and treatment it is important to include both phenotype and genetic information.
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