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TBCK syndrome: a rare multi-organ neurodegenerative disease.
Durham, Emily L; Angireddy, Rajesh; Black, Aaron; Melendez-Perez, Ashley; Smith, Sarina; Gonzalez, Elizabeth M; Navarro, Kristen G; Díaz, Abdias; Bhoj, Elizabeth J K; Katsura, Kaitlin A.
Affiliation
  • Durham EL; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA.
  • Angireddy R; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA.
  • Black A; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA.
  • Melendez-Perez A; Division of Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Smith S; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA.
  • Gonzalez EM; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA; Division of Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Navarro KG; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA.
  • Díaz A; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA; Division of Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Bhoj EJK; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA; Division of Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address: Bhoje@chop.edu.
  • Katsura KA; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA; Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA. Electronic address: Kei.Katsura@ucsf.
Trends Mol Med ; 29(10): 783-785, 2023 10.
Article in En | MEDLINE | ID: mdl-37455236
ABSTRACT
TBCK syndrome is an autosomal recessive disorder primarily characterized by global developmental delay, hypotonia, abnormal magnetic resonance imaging (MRI), and distinctive craniofacial phenotypes. High variability is observed among affected individuals and their corresponding variants, making clinical diagnosis challenging. Here, we discuss recent breakthroughs in clinical considerations, TBCK function, and therapeutic development.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Serine-Threonine Kinases / Neurodegenerative Diseases Type of study: Diagnostic_studies / Etiology_studies Limits: Humans Language: En Journal: Trends Mol Med Journal subject: BIOLOGIA MOLECULAR Year: 2023 Document type: Article Affiliation country: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Serine-Threonine Kinases / Neurodegenerative Diseases Type of study: Diagnostic_studies / Etiology_studies Limits: Humans Language: En Journal: Trends Mol Med Journal subject: BIOLOGIA MOLECULAR Year: 2023 Document type: Article Affiliation country: United States