A recurrent De Novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations
- Creator: Palmer, Elizabeth E. , Kumar, Raman , Oufadem, Myriam , Lalani, Seema R. , Lewis, Andrea M. , Xia, Fan , Tam, Allison , Webster, Richard , Brammah, Susan , Filippini, Francesca , Pollard, John , Spies, Judy , Gordon, Christopher T. , Minoche, Andre E. , Cowley, Mark J. , Risen, Sarah , Powell-Hamilton, Nina N. , Tusi, Jessica E. , Immken, LaDonna , Nagakura, Honey , Bole-Feysot, Christine , Nitschké, Patrick , Garrigue, Alexandrine , Shaw, Marie , de Saint Basile, Geneviève , Kivuva, Emma , Scott, Richard H. , Rendon, Augusto , Munnich, Arnold , Newman, William , Kerr, Bronwyn , Besmond, Claude , Rosenfeld, Jill A. , Amiel, Jeanne , Hubert, Laurence , Field, Michael , Gecz, Jozef , Carroll, Renee , Rio, Marlène , Murray, Lucinda , Leffler, Melanie , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2017
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA
- Creator: van Kogelenberg, Margriet , Clark, Alice R. , Tolmie, John , Stewart, Fiona , Kivuva, Emma , Pilz, Daniela T. , Gabbett, Michael , Sutherland-Smith, Andrew J. , Robertson, Stephen P. , Jenkins, Zandra , Morgan, Tim , Anandan, Ananda , Sawyer, Gregory M. , Edwards, Matthew , Dudding, Tracy , Homfray, Tessa , Castle, Bruce
- Resource Type: journal article
- Date: 2015