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

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

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 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of feb...

Full description

Saved in:
Bibliographic Details
Main Authors: Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.
Format: Text
Language:English
Published: Elsevier 2017
Subjects:
Report
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC5501873/
https://pubmed.ncbi.nlm.nih.gov/28686853
http://dx.doi.org/10.1016/j.ajhg.2017.06.002
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://pmc.ncbi.nlm.nih.gov/articles/PMC5501873/
https://pubmed.ncbi.nlm.nih.gov/28686853
http://dx.doi.org/10.1016/j.ajhg.2017.06.002

Similar Items