Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

De novo variants in DDX3X account for 1–3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty‐seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique DDX3X variants,...

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Detalles Bibliográficos
Autores principales: Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten, Joke, Leduc, Magalie S., He, Weimin, Vetrini, Francesco, Walkiewicz, Magdalena A., Bi, Weimin, Xiao, Rui, Liu, Pengfei, Shao, Yunru, Gezdirici, Alper, Gulec, Elif Y., Jiang, Yunyun, Darilek, Sandra A., Hansen, Adam W., Khayat, Michael M., Pehlivan, Davut, Piard, Juliette, Muzny, Donna M., Hanchard, Neil, Belmont, John W., Van Maldergem, Lionel, Gibbs, Richard A., Eldomery, Mohammad K., Akdemir, Zeynep C., Adesina, Adekunle M., Chen, Shan, Lee, Yi‐Chien, Lee, Brendan, Lupski, James R., Eng, Christine M., Xia, Fan, Yang, Yaping, Graham, Brett H., Moretti, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186933/
https://www.ncbi.nlm.nih.gov/pubmed/30349862
http://dx.doi.org/10.1002/acn3.622

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186933/
https://www.ncbi.nlm.nih.gov/pubmed/30349862
http://dx.doi.org/10.1002/acn3.622

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