title: Weaver syndrome and defective cortical development: a rare association.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Al-Salem
authors.forename: Muneera J
authors.initials: MJ
authors.lastname: Alshammari
authors.forename: Hamdy
authors.initials: H
authors.lastname: Hassan
authors.forename: Anas M
authors.initials: AM
authors.lastname: Alazami
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D003409:Congenital Hypothyroidism / Q000175:diagnosis* / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D000071221:Enhancer of Zeste Homolog 2 Protein; D005091:Exons; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D063151:Polycomb Repressive Complex 2 / Q000235:genetics
chemical_list: C498409:EZH2 protein, human; D000071221:Enhancer of Zeste Homolog 2 Protein; D063151:Polycomb Repressive Complex 2