Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

BACKGROUND: PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations. In addition, three patients with de novo truncating mutations in P...

Full description

Saved in:
Bibliographic Details
Published in:Mol Autism
Main Authors: Kim, Hyung-Goo, Rosenfeld, Jill A., Scott, Daryl A., Bénédicte, Gerard, Labonne, Jonathan D., Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des Portes, Vincent, Bruel, Ange-Line, Sorlin, Arthur, Xia, Fan, Capri, Yline, Muller, Eric, McKnight, Dianalee, Torti, Erin, Rüschendorf, Franz, Hummel, Oliver, Islam, Zeyaul, Kolatkar, Prasanna R., Layman, Lawrence C., Ryu, Duchwan, Kong, Il-Keun, Madan-Khetarpal, Suneeta, Kim, Cheol-Hee
Format: Artigo
Language:Inglês
Published: BioMed Central 2019
Subjects:
Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6805429/
https://ncbi.nlm.nih.gov/pubmed/31649809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-019-0286-0
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items