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Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures
Author(s) -
Stern D.,
Cho M.T.,
Chikarmane R.,
Willaert R.,
Retterer K.,
Kendall F.,
Deardorff M.,
Hopkins S.,
Bedoukian E.,
Slavotinek A.,
Schrier Vergano S.,
Spangler B.,
McDonald M.,
McConkieRosell A.,
Burton B.K.,
Kim K.H.,
Oundjian N.,
Kronn D.,
Chandy N.,
Baskin B.,
Guillen Sacoto M.J.,
Wentzensen I.M.,
McLaughlin H.M.,
McKnight D.,
Chung W.K.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12956
Subject(s) - patent foramen ovale , missense mutation , intellectual disability , medicine , anterior fontanelle , global developmental delay , neuroscience , psychology , anatomy , biology , psychiatry , genetics , mutation , phenotype , migraine , gene
Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive‐compulsive disorder; OFC, open fontanelle; PDA, patent ductus arteriosis; PFO, patent foramen ovale; VSD, ventricular septal defect; Wt, weight.