13Bühler EM, Malik NJ, Alkan M. Another model for the inheritance of Rett syndrome. Am J Med Genet, 1990,36:126-131. 14Anvret M, Zhang ZP. Current status of genetic research in Rett syndrome. Neuropediatrics, 1995,26:88-89. 15Naidu S, Hyman S, Harris EL, et al. Rett syndrome s...
13Bühler EM, Malik NJ, Alkan M. Another model for the inheritance of Rett syndrome. am J Med Genet, 1990,36:126-131. 14Anvret M, Zhang ZP. Current status of genetic research in Rett syndrome. neuropediatrics, 1995,26:88-89. 15Naidu S, Hyman S, Harris EL, et al. Rett syndrome s...
Rett Syndrome is caused through mutations or deletions of a single gene, methyl CpG binding protein 2 (MECP2) on the X chromosome, similar to Fragile X Syndrome. However, Rett Syndrome exhibits X-linked inheritance, and the majority of cases are found in young women (Hagberg et al., 1983...
The Rett syndrome is a neurodevelopment disorder with X-linked dominant inheritance, which is usually caused by mutation in the MECP2 gene. It affects 1:10,000 women and there are 320 cases described in Spain. A descriptive study of patients with Rett Sd and molecular mutations discovered by...
Rett syndrome (RTT) is a syndromic autism spectrum disorder caused by loss-of-function mutations in MECP2. The methyl CpG binding protein 2 binds methylcyt
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185–188. 16. Sirianni N, Naidu S, Pereira J, Pillotto RF, Hoffman EP. Rett Syndrome: confirmation of X-linked Dominant Inheritance, and Localization of the Gene to ...
Rett syndrome (RTT) is a severe neurological disorder and a leading cause of intellectual disability in young females. RTT is mainly caused by mutations found in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2). Despite extensive studies, the molecular mechanism underlying RTT pat...
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylat...
This did not uncover any genetic marker for diagnosis, but it did suggest how the syndrome might have segregated in the family. A cytogenetic analysis gave no information about chromosome abnormalities. 展开 关键词: haplotyping familial Rett syndrome ...
Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28 Am J Hum Genet, 63 (1998), pp. 1552-1558 Google Scholar Tate et al., 1996 P Tate, W Skarnes, A Bird The methyl-CpG binding protein MeCP2 is essential for embryonic development in the ...