Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Joanne Massiah"'
Autor:
Sarah L. Wynn, Jacqueline N. Gauthier, Nancy Kramer, Mervyn Humphreys, Mark S. Bateman, Michael Marble, Barbro Stadheim, Joanne Massiah, Tabib Dabir, Tyler Reimschisel, Jill A. Rosenfeld, Taosheng Huang, John C. K. Barber, Claire L. S. Turner, John M. Graham, Sarah J. Beal, Emma-Jane Taylor, Athar M. Qureshi, Morag N. Collinson, Katherine Lachlan
Publikováno v:
American Journal of Medical Genetics Part A. 167:2052-2064
The 8p23.1 duplication syndrome (8p23.1 DS) is a recurrent genomic condition with an estimated prevalence of 1 in 58,000. The core 3.68 Mb duplication contains 32 genes of which five are currently candidates for the phenotypic features. Here we descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecd0dc6dcf63fff93c41d43cd5471fc4
https://doi.org/10.1002/ajmg.a.37120
https://doi.org/10.1002/ajmg.a.37120
