Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

Eitemau Tebyg

• MECP2 Mutations in People without Rett Syndrome
  gan: Suter, Bernhard, et al.
  Cyhoeddwyd: (2014)
• Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms
  gan: Buyse, Inge M., et al.
  Cyhoeddwyd: (2000)
• Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
  gan: Heckman, Laura Dean, et al.
  Cyhoeddwyd: (2014)
• Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2
  gan: Sajan, Samin A., et al.
  Cyhoeddwyd: (2016)
• Detection of Rarely Identified Multiple Mutations in MECP2 Gene Do Not Contribute to Enhanced Severity in Rett Syndrome
  gan: Chapleau, Christopher A., et al.
  Cyhoeddwyd: (2013)