Hyung-Goo Kim Jill A Rosenfeld Daryl A Scott Gerard Bénédicte Jonathan D Labonne Jason Brown Marianne McGuire Sonal Mahida Sakkubai Naidu Jacqueline Gutierrez Gaetan Lesca Vincent des Portes Ange-Line Bruel Arthur Sorlin Fan Xia Yline Capri Eric Muller Dianalee McKnight Erin Torti Franz Rüschendorf Oliver Hummel Zeyaul Islam Prasanna R Kolatkar Lawrence C Layman Duchwan Ryu Il-Keun Kong Suneeta Madan-Khetarpal Cheol-Hee Kim
10.1186/s13229-019-0286-0
Mol Autism
2019 Oct 22;10:35.
at hook domain autism spectrum disorder (asd) bhc80 intellectual disability (id) intrinsically disordered region (idr) kdm1a neurodevelopmental disorders phf21a potocki-shaffer syndrome (pss)
CC BY
https://pubmed.ncbi.nlm.nih.gov/31649809/
Autistic Disorder / genetics Behavior Craniofacial Abnormalities / genetics Epilepsy / genetics Histone Deacetylases / genetics Intellectual Disability / genetics Muscle Hypotonia / genetics
Autistic Disorder / genetics Behavior Craniofacial Abnormalities / genetics Epilepsy / genetics Histone Deacetylases / genetics Intellectual Disability / genetics Muscle Hypotonia / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Amino Acid Sequence Autistic Disorder / complications Brain / metabolism Child Child, Preschool Craniofacial Abnormalities / complications Epilepsy / complications Female Histone Deacetylases / chemistry Histone Deacetylases / metabolism Humans Infant Infant, Newborn Intellectual Disability / complications Male Muscle Hypotonia / complications Mutation / genetics Protein Domains RNA, Messenger / genetics RNA, Messenger / metabolism Syndrome RNA, Messenger PHF21A protein, human Histone Deacetylases
PMC6805429
31649809
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
2019