Article
Current developments in the genetics of Rett and Rett-like syndrome.
Current opinion in psychiatry - 1 Mar 2018
Ehrhart Friederike, Sangani Nasim B, Curfs Leopold M G
Abstract excerpt
PURPOSE OF REVIEW: This article reviews the current molecular genetic studies, which investigate the genetic causes of Rett syndrome or Rett-like phenotypes without a MECP2 mutation. RECENT FINDINGS: As next generation sequencing becomes broadly available, especially whole exome sequencing is used in clinical diagnosis of the genetic causes of a wide spectrum of intellectual disability, autism, and...
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