Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
Elizabeth Bhoj(Children's Hospital of Philadelphia), Håkon Håkonarson(Children's Hospital of Philadelphia), Laurence Colleaux(Inserm), Patrick Nitschké(Délégation Paris 5), Orly Elpeleg(Hadassah Medical Center), Christine Bôle‐Feysot(Centre National de la Recherche Scientifique), Peter B. Crino(University of Maryland, Baltimore), Karine Siquier-Pernet(Délégation Paris 5), Madhuri Hegde(Emory University), Margaret Harr(Children's Hospital of Philadelphia), Samantha A. Schrier Vergano(Children's Hospital of The King's Daughters), Maria Walke(Miami Children's Hospital), Ganka Douglas, Simon Edvardson(Hebrew University of Jerusalem), Jane Juusola, María J. Guillen Sacoto, Elizabeth Chisholm(Children's Hospital of The King's Daughters), Debra-Lynn Day-Salvatore(Saint Peter's University Hospital), Dong Li(Children's Hospital of Philadelphia), Abdelkrim Saadi(University of Algiers Benyoucef Benkhedda), Michele B. Horner(Saint Peter's University Hospital), Alekhya Narravula(Emory University), Parul Jayakar(Miami Children's Hospital), Mark A. Tarnopolsky(McMaster University)
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