Pathogenic Variants in the Paired-Related Homeobox 1 Gene (PRRX1) Cause Craniosynostosis with Incomplete Penetrance.
Rebecca S. Tooze,Kerry A. Miller,Sigrid M. A. Swagemakers, Eduardo Calpena,Simon J. McGowan,Odile Boute,Corinne Collet,David Johnson,Fanny Laffargue,Nicole de Leeuw,Jenny V. Morton,Peter Noons,Charlotte W. Ockeloen,Julie M. Phipps,Tiong Yang Tan,Andrew T. Timberlake,Clemence Vanlerberghe,Steven A. Wall,Astrid Weber,Louise C. Wilson, Elaine H. Zackai,Irene M. J. Mathijssen,Stephen R. F. Twigg,Andrew O. M. Wilkie GENETICS IN MEDICINE（2023）
关键词
Craniosynostosis,Homeodomain,Nuclear localization,Paired-related homeobox,PRRX1,PRX1
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