The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).

Authors:
Zeev BB, Bebbington A, Ho G, Leonard H, de Klerk N, Gak E, Vecsler M, Christodoulou J

Authors notes:
Neurology. 2009; 72(14):1242-7

Keywords:
Rett syndrome, RTT, mutations, transcriptional repressor methyl CpG-binding protein 2, MECP2

Abstract:
Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).