WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Autor: Dagmar Wieczorek, Stephen P. Robertson, Lynne M. Bird, Megan T. Cho, Avni Santani, Amber Begtrup, Cara M. Skraban, Marlies Kempers, Richard E. Person, Tjitske Kleefstra, Martina M. Owens, Koen L.I. van Gassen, Kristin McDonald Gibson, Alice Goldenberg, Preetha Markose, Evelien Zonneveld-Huijssoon, Katelyn Payne, Arjan P.M. de Brouwer, Taylor C. Warner, Jane Juusola, Matthew A. Deardorff, Kajia Cao, John A. Bernat, Claire L. S. Turner, Addie I. Nesbitt, Esther Kinning, Amber Stocco, Patricia G. Wheeler, Nienke E. Verbeek, Alisha Wilkens, David Markie, Ganka Douglas, A. Micheil Innes, Elizabeth Denenberg, P.Y. Billie Au, Katheryn Grand, Rolph Pfundt, Constance F. Wells, Laurence E. Walsh

Publikováno v: American Journal of Human Genetics, 101, 1, pp. 139-148
American Journal of Human Genetics, 101(1), 139. Cell Press
American Journal of Human Genetics, 101, 139-148

Contains fulltext : 177285.pdf (Publisher’s version ) (Closed access) We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d8926c39d988e73fe313405d0c47b42
https://doi.org/10.1016/j.ajhg.2017.06.002