Article
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Molecular autism - 1 Jan 2019
Kim Hyung-Goo, Rosenfeld Jill A, Scott Daryl A, Bénédicte Gerard, Labonne Jonathan D, Brown Jason, McGuire Marianne, Mahida Sonal, Naidu Sakkubai, Gutierrez Jacqueline, Lesca Gaetan, des Portes Vincent, Bruel Ange-Line, Sorlin Arthur, Xia Fan, Capri Yline, Muller Eric, McKnight Dianalee, Torti Erin, Rüschendorf Franz, Hummel Oliver, Islam Zeyaul, Kolatkar Prasanna R, Layman Lawrence C, Ryu Duchwan, Kong Il-Keun, Madan-Khetarpal Suneeta, Kim Cheol-Hee
Abstract excerpt
Background: 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 patients with de novo truncating mutations in PHF21A were reported recently. Here, we analyze genomic data from seven unrelated individuals with mutations in...
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