Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

[Image: see text] Graphical abstract key: Wt: weight, Ht: height, OFC: open fontanelle, DD: developmental delay, ID: intellectual disability, EEG: electroencephalogram, OCD: obsessive compulsive disorder, ADHD: attention deficit hyperactivity disorder, ASD: atrial septal defect, VSD: ventricular sep...

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Publicat a:Clin Genet
Autors principals: Stern, Diana, Cho, Megan T., Chikarmane, Rashmi, Willaert, Rebecca, Retterer, Kyle, Kendall, Fran, Deardorff, Matthew, Hopkins, Sarah, Bedoukian, Emma, Slavotinek, Anne, Vergano, Samantha Schrier, Spangler, Brooke, McDonald, Marie, McConkie-Rosell, Allyn, Burton, Barbara K., Kim, Katherine H., Oundjian, Nelly, Kronn, David, Chandy, Nandini, Baskin, Berivan, Guillen Sacoto, Maria J., Wentzensen, Ingrid M., McLaughlin, Heather M., McKnight, Dianalee, Chung, Wendy K.
Format: Artigo
Idioma:Inglês
Publicat: 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5513756/
https://ncbi.nlm.nih.gov/pubmed/28111752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12956
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