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Rett Syndrome and MECP2-Related Disorders 

Rett Syndrome and MECP2-Related Disorders
Chapter:
Rett Syndrome and MECP2-Related Disorders
Author(s):

Jeffrey L. Neul

DOI:
10.1093/med/9780195371826.003.0051
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date: 23 October 2017

This chapter provides a brief outline of the clinical features of typical Rett Syndrome (RTT) and describes the genetic locus mutated in the majority of typical RTT. It presents the clinical aspects and genetics of atypical forms of RTT and other MECP2-related disorders, and then introduces the molecular function of MeCP2 and animal models of RTT and MECP2-related disorders.

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