DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

PURPOSE: Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A variants. METHODS: A large database of clinical exome sequencing (ES)...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Genet Med
Main Authors: Blackburn, Alexandria T.M., Bekheirnia, Nasim, Uma, Vanessa C., Corkins, Mark E., Xu, Yuxiao, Rosenfeld, Jill A., Bainbridge, Matthew N., Yang, Yaping, Liu, Pengfei, Madan-Khetarpal, Suneeta, Delgado, Mauricio R., Hudgins, Louanne, Krantz, Ian, Rodriguez-Buritica, David, Wheeler, Patricia G., Al Gazali, Lihadh, Al Shamsi, Aisha Mohamed Saeed Mohamed, Gomez-Ospina, Natalia, Chao, Hsiao-Tuan, Mirzaa, Ghayda M., Scheuerle, Angela E., Kukolich, Mary K, Scaglia, Fernando, Eng, Christine, Willsey, Helen Rankin, Braun, Michael C., Lamb, Dolores J., Miller, Rachel K., Bekheirnia, Mir Reza
Format: Artigo
Sprog:Inglês
Udgivet: 2019
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6895419/
https://ncbi.nlm.nih.gov/pubmed/31263215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0576-0
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker