Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
Titel:
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
Auteur:
Bhoj, Elizabeth J. Li, Dong Harr, Margaret Edvardson, Shimon Elpeleg, Orly Chisholm, Elizabeth Juusola, Jane Douglas, Ganka Guillen Sacoto, Maria J. Siquier-Pernet, Karine Saadi, Abdelkrim Bole-Feysot, Christine Nitschke, Patrick Narravula, Alekhya Walke, Maria Horner, Michele B. Day-Salvatore, Debra-Lynn Jayakar, Parul Vergano, Samantha A. Schrier Tarnopolsky, Mark A. Hegde, Madhuri Colleaux, Laurence Crino, Peter Hakonarson, Hakon