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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
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.
Affiliation
  • Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: bhoje@email.chop.edu.
  • Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Harr M; Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Edvardson S; Pediatric Neurology Unit, Hadassah University Hospital, Mount Scopus, Jerusalem 91120, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
  • Chisholm E; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA.
  • Juusola J; GeneDx, Gaithersburg, MD 20877, USA.
  • Douglas G; GeneDx, Gaithersburg, MD 20877, USA.
  • Guillen Sacoto MJ; GeneDx, Gaithersburg, MD 20877, USA.
  • Siquier-Pernet K; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Necker-Enfants Malades Hospital, 75015 Paris, France.
  • Saadi A; Département de Neurologie, Etablissement Hospitalier Spécialisé de Benaknoun, Algers, Algeria.
  • Bole-Feysot C; Genomic Platform, INSERM UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Nitschke P; Plateforme de Bioinformatique, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Narravula A; Emory Genetics Laboratory, Emory University, Decatur, GA 30033, USA.
  • Walke M; Nicklaus Children's Hospital, Miami, FL, 33155, USA.
  • Horner MB; Department of Medical Genetics & Genomic Medicine, St. Peter's University Hospital, New Brunswick, NJ 08901, USA.
  • Day-Salvatore DL; Department of Medical Genetics & Genomic Medicine, St. Peter's University Hospital, New Brunswick, NJ 08901, USA.
  • Jayakar P; Nicklaus Children's Hospital, Miami, FL, 33155, USA.
  • Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA.
  • Tarnopolsky MA; Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada.
  • Hegde M; Emory Genetics Laboratory, Emory University, Decatur, GA 30033, USA.
  • Colleaux L; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Necker-Enfants Malades Hospital, 75015 Paris, France.
  • Crino P; Department of Neurology, Temple University, Philadelphia, PA 19122, USA.
  • Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Am J Hum Genet ; 98(4): 782-8, 2016 Apr 07.
Article in En | MEDLINE | ID: mdl-27040691
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Serine-Threonine Kinases / Intellectual Disability / Muscle Hypotonia / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2016 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Serine-Threonine Kinases / Intellectual Disability / Muscle Hypotonia / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2016 Type: Article