Cargando…
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...
Autores principales: | 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 |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805429/ https://www.ncbi.nlm.nih.gov/pubmed/31649809 http://dx.doi.org/10.1186/s13229-019-0286-0 |
Ejemplares similares
-
Infantile hypotonia with failure to thrive
por: Nagiub, Mohamed, et al.
Publicado: (2012) -
Molecular Analysis and Conformational Dynamics of Human MC4R Disease-Causing Mutations
por: Fatima, Munazza Tamkeen, et al.
Publicado: (2022) -
DNAJB3 attenuates ER stress through direct interaction with AKT
por: Islam, Zeyaul, et al.
Publicado: (2023) -
Deletion of Prepl Causes Growth Impairment and Hypotonia in Mice
por: Lone, Anna Mari, et al.
Publicado: (2014) -
‘Toning’ up hypotonia assessment: A proposal and critique
por: Govender, Pragashnie, et al.
Publicado: (2016)