(2007). MECP2 mutations in males. J. Med. Genet. 44, 417-423.Villard L. (2007) MECP2 mutations in males. J Med Genet 44, 417-423.Villard, L. (2007) MECP2 mutations in males. J. Med. Genet., 44, 417- 423.Villard L. MECP2 mutations in males. J Med Genet. 2007;44: ...
MECP2 mutations in males 喜欢 0 阅读量: 55 作者: Villard,L.摘要: Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent cause of profound mental handicap in women. RS is ...
The true frequency of MECP2 mutations in the mentally retarded has probably been overestimated. Based on our data, the frequency of MECP2 mutations in mentally retarded males is 0.2% (1/475).doi:10.1038/sj.ejhg.5200836Yntema, Helger G...
Text EnglishEspañolDeutschFrançaisItalianoالعربية中文简体PolskiPortuguêsNederlandsNorskΕλληνικήРусскийTürkçeאנגלית 9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook ...
The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls. Until RTT was considered lethal in males, although now approximately 60 cases have been reported. Males with MECP2 mutations present with a broad spectrum of phenotypes ...
Approximately 95% of RTT cases are caused by more than 200 different mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). While numerous transgenic mice have been created modeling common mutations in MeCP2, the behavioral phenotype of many of these male and, ...
Mutations in the methyl CpG binding protein 2 (MECP2) gene account for 70–80% of Rett syndrome cases and are also involved in a broad spectrum of phenotypes, including mild intellectual difficulties in females and neonatal encephalopathy in males surviving to birth [2], [3], [4], [5]....
Of these five conditions, only RTT has a known genetic cause, with mutations in Methyl-CpG-binding protein 2 (MeCP2), a global repressor of gene expression, responsible for the majority of RTT cases. However, recent evidence indicates that reduced MeCP2 expression or activity is also found ...
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP 2) Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorde... U Moog,EEJ Smeets,KEPV Roozendaal,...
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J]. Nat Genet, 1999, 23(2): 185-188. [3] Hagberg B, Aicardi J, Dias K, et al. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's ...