De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia

Autor: Kleefstra, T., Yntema, H. G., Oudakker, A. R., Romein, T., Sistermans, E., Nillessen, W., van Bokhoven, H., de Vries, B. B.A., Hamel, B. C.J.

Publikováno v: Clinical Genetics, 61, 5, pp. 359-62
Clinical Genetics, 61, 359-62
Kleefstra, T, Yntema, H G, Oudakker, A R, Romein, T, Sistermans, E, Nillessen, W, van Bokhoven, H, de Vries, B B A & Hamel, B C J 2002, ' Denovo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia ', Clinical Genetics, vol. 61, no. 5, pp. 359-362 . https://doi.org/10.1034/j.1399-0004.2002.610507.x
Clinical Genetics, 61(5), 359-362. Wiley-Blackwell

Contains fulltext : 166912.pdf (Publisher’s version ) (Closed access) Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality in male embryos. However, recent studies indicate th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b7529cc443ff8f8398f60f2b963a9878
https://doi.org/10.1034/j.1399-0004.2002.610507.x