Delineating the Genotypic and Phenotypic Spectrum of HECW2-related Neurodevelopmental Disorders
Anushree Acharya,Haluk Kavus, Patrick Dunn,Abdul Nasir,Leandra Folk,Kara Withrow,Ingrid M. Wentzensen,Maura R. Z. Ruzhnikov, Camille Fallot,Thomas Smol,Melanie Rama,Kathleen Brown,Sandra Whalen,Alban Ziegler,Magali Barth,Anna Chassevent,Constance Smith-Hicks,Alexandra Afenjar,Thomas Courtin,Solveig Heide,Esperanza Font-Montgomery, Caleb Heid,J. Austin Hamm,Donald R. Love,Farouq Thabet,Vinod K. Misra,Mitch Cunningham,Suzanne M. Leal,Irma Jarvela,Elizabeth A. Normand,Fanggeng Zou,Mayada Helal,Boris Keren,Erin Torti,Wendy K. Chung,Isabelle Schrauwen Journal of medical genetics（2021）
Key words
neurology,genetic variation,phenotype,human genetics
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