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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Dara Tolchin, Jessica P. Yeager,Priya Prasad,Naghmeh Dorrani,Alvaro Serrano Russi,Julian A. Martinez-Agosto,Abdul Haseeb,Marco Angelozzi,G. W. E. Santen,Claudia Ruivenkamp,Saadet Mercimek-Andrews,Christel Depienne,Alma Kuechler,Barbara Mikat,Hermann-Josef Ludecke,Frederic Bilan,Gwenael Le Guyader,Brigitte Gilbert-Dussardier,Boris Keren,Solveig Heide,Damien Haye,Hilde Van Esch,Liesbeth Keldermans,Damara Ortiz,Emily Lancaster,Ian D. Krantz,Bryan L. Krock,Kieran B. Pechter,Alexandre Arkader,Livija Medne,Elizabeth T. DeChene,Eduardo Calpena,Giada Melistaccio,Andrew O. M. Wilkie,Mohnish Suri,Nicola Foulds,Amber Begtrup,Lindsay B. Henderson,Cara Forster, Patrick Reed,Marie T. McDonald,Allyn McConkie-Rosell,Julien Thevenon,Pauline Le Tanno,Charles Coutton,Anne C. H. Tsai,Sarah Stewart,Ales Maver,Rudolf Gorazd,Olivier Pichon,Mathilde Nizon,Benjamin Cogne,Bertrand Isidor,Dominique Martin-Coignard,Radka Stoeva,Veronique Lefebvre,Cedric Le Caignec

The American Journal of Human Genetics（2020）

Cited 17|Views81
Key words
SOX6,developmental delay,intellectual disability,osteochondroma,craniosynostosis,ADHD,SOXopathy,genetic variant,human disease,dysmorphism
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