Variants in ZFX Are Associated with an X-linked Neurodevelopmental Disorder with Recurrent Facial Gestalt.

James L. Shepherdson, Katie Hutchison,Dilan Wellalage Don,George McGillivray,Tae-Ik Choi,Carolyn A. Allan,David J. Amor,Siddharth Banka,Donald G. Basel, Laura D. Buch,Deanna Alexis Carere,Renee Carroll,Jill Clayton-Smith,Ali Crawford,Morten Duno,Laurence Faivre,Christopher P. Gilfillan,Nina B. Gold,Karen W. Gripp,Emma Hobson,Alexander M. Holtz,A. Micheil Innes,Bertrand Isidor,Adam Jackson,Panagiotis Katsonis, Leila Amel Riazat Kesh,Sebastien Kury,Francois Lecoquierre,Paul Lockhart,Julien Maraval,Naomichi Matsumoto,Julie McCarrier,Josephine McCarthy,Noriko Miyake,Lip Hen Moey,Andrea H. Nemeth,Elsebet Ostergaard, Rushina Patel,Kate Pope,Jennifer E. Posey,Rhonda E. Schnur,Marie Shaw,Elliot Stolerman,Julie P. Taylor,Erin Wadman,Emma Wakeling,Susan M. White, Lawrence C. Wong,James R. Lupski,Olivier Lichtarge,Mark A. Corbett,Jozef Gecz,Charles M. Nicolet,Peggy J. Farnham,Cheol-Hee Kim,Marwan Shinawi

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

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关键词

behavioral problems,congenital anomalies,de novo mutation,developmental delay,hyperparathyroidism,hypotonia,intellectual disability,transcription factor,X-linked,ZFX,zinc finger

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