Article
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
American journal of human genetics - 7 Mar 2024
Shepherdson James L, Hutchison Katie, Don Dilan Wellalage, McGillivray George, Choi Tae-Ik, Allan Carolyn A, Amor David J, Banka Siddharth, Basel Donald G, Buch Laura D, Carere Deanna Alexis, Carroll Renée, Clayton-Smith Jill, Crawford Ali, Dunø Morten, Faivre Laurence, Gilfillan Christopher P, Gold Nina B, Gripp Karen W, Hobson Emma, Holtz Alexander M, Innes A Micheil, Isidor Bertrand, Jackson Adam, Katsonis Panagiotis, Amel Riazat Kesh Leila, Küry Sébastien, Lecoquierre François, Lockhart Paul, Maraval Julien, Matsumoto Naomichi, McCarrier Julie, McCarthy Josephine, Miyake Noriko, Moey Lip Hen, Németh Andrea H, Østergaard Elsebet, Patel Rushina, Pope Kate, Posey Jennifer E, Schnur Rhonda E, Shaw Marie, Stolerman Elliot, Taylor Julie P, Wadman Erin, Wakeling Emma, White Susan M, Wong Lawrence C, Lupski James R, Lichtarge Olivier, Corbett Mark A, Gecz Jozef, Nicolet Charles M, Farnham Peggy J, Kim Cheol-Hee, Shinawi Marwan
Abstract excerpt
Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease. Here, we present clinical and molecular characterization of 18...
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