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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Autor: Bhoj, Elizabeth, Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria, Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Peter, Day-Salvatore, Peter, Jayakar, Parul, Vergano, Samantha, Tarnopolsky, Mark, Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon, Bhoj, Elizabeth J., Guillen Sacoto, Maria J., Horner, Michele B., Day-Salvatore, Debra-Lynn, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A.

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (4), pp.782-788. ⟨10.1016/j.ajhg.2016.03.016⟩

International audience; Through an international multi-center collaboration, 13 individuals from nine unrelated families and affected by likely pathogenic biallelic variants in TBC1-domain-containing kinase (TBCK) were identified through whole-exome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bf871dc3ecb1f4e679a295325f03d56