Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

<h3>Background</h3><p dir="ltr">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...

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Main Author: Hyung-Goo Kim (728597) (author)
Other Authors: Jill A. Rosenfeld (9606199) (author), Daryl A. Scott (10139232) (author), Gerard Bénédicte (18615115) (author), Jonathan D. Labonne (18615118) (author), Jason Brown (253739) (author), Marianne McGuire (4355386) (author), Sonal Mahida (6413285) (author), Sakkubai Naidu (804374) (author), Jacqueline Gutierrez (7532777) (author), Gaetan Lesca (6380633) (author), Vincent des Portes (449415) (author), Ange-Line Bruel (3178743) (author), Arthur Sorlin (7532780) (author), Fan Xia (219575) (author), Yline Capri (3181152) (author), Eric Muller (2212156) (author), Dianalee McKnight (7532783) (author), Erin Torti (7532786) (author), Franz Rüschendorf (73756) (author), Oliver Hummel (30411) (author), Zeyaul Islam (5867387) (author), Prasanna R. Kolatkar (124118) (author), Lawrence C. Layman (13913559) (author), Duchwan Ryu (7532795) (author), Il-Keun Kong (85884) (author), Suneeta Madan-Khetarpal (4355359) (author), Cheol-Hee Kim (36752) (author)
Published: 2019
Subjects:
Biological sciences
Genetics
PHF21A
BHC80
Intellectual disability (ID)
Autism spectrum disorder (ASD)
Neurodevelopmental disorders
Potocki-Shaffer syndrome (PSS)
AT Hook domain
Intrinsically disordered region (IDR)
KDM1A
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