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Genomic and Phenotypic Characterization of 404 Individuals with Neurodevelopmental Disorders Caused by CTNNB1 Variants.

Sayaka Kayumi,Luis A. Perez-Jurado,Maria Palomares,Sneha Rangu,Sarah E. Sheppard,Wendy K. Chung,Michael C. Kruer,Mira Kharbanda,David J. Amor,George McGillivray,Julie S. Cohen,Sixto Garcia-Minaur,Clare L. van Eyk,Kelly Harper,Lachlan A. Jolly,Dani L. Webber,Christopher P. Barnett,Fernando Santos-Simarro,Marta Pacio-Miguez,Angela del Pozo,Somayeh Bakhtiari,Matthew Deardorff,Holly A. Dubbs,Kosuke Izumi,Katheryn Grand,Christopher Gray,Paul R. Mark,Elizabeth J. Bhoj,Dong Li,Xilma R. Ortiz-Gonzalez,Beth Keena,Elaine H. Zackai,Ethan M. Goldberg,Guiomar Perez de Nanclares,Arrate Pereda,Isabel Llano-Rivas,Ignacio Arroyo, Maria Angeles Fernandez-Cuesta,Christel Thauvin-Robinet,Laurence Faivre,Aurore Garde,Benoit Mazel,Ange-Line Bruel,Michael L. Tress,Eva Brilstra,Amena Smith Fine,Kylie E. Crompton,Alexander P. A. Stegmann,Margje Sinnema,Servi C. J. Stevens,Joost Nicolai,Gaetan Lesca,Laurence Lion-Francois,Damien Haye,Nicolas Chatron,Amelie Piton,Mathilde Nizon,Benjamin Cogne,Siddharth Srivastava,Jennifer Bassetti,Candace Muss,Karen W. Gripp,Rebecca A. Procopio,Francisca Millan,Michelle M. Morrow,Melissa Assaf,Andres Moreno-De-Luca,Shelagh Joss,Mark J. Hamilton,Marta Bertoli,Nicola Foulds,Shane McKee,Alastair H. MacLennan,Jozef Gecz,Mark A. Corbett

Genetics in Medicine（2022）

Cited 23|Views35
Key words
Autism,Cerebral palsy,Familial exudative vitreoretinopathy,Microcephaly,Wnt beta catenin signaling pathway
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