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Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
Maroofian, Reza; Efthymiou, Stephanie; Suri, Mohnish; Rahman, Fatima; Zaki, Maha S; Maqbool, Shazia; Anwa, Najwa; Ruiz-Pérez, Victor L; Yanovsky-Dagan, Shira; Elpeleg, Orly; Sudhakar, Sniya; Mankad, Kshitij; Harel, Tamar; Houlden, Henry.
Affiliation
  • Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK r.maroofian@ucl.ac.uk.
  • Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Rahman F; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Maqbool S; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan.
  • Anwa N; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan.
  • Ruiz-Pérez VL; Instituto de Investigaciones Biomédicas "Alberto Sols", Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), and CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Yanovsky-Dagan S; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Elpeleg O; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Sudhakar S; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.
  • Mankad K; Department of Radiology, Great Ormond Street Hospital for Children, London, UK.
  • Harel T; Department of Radiology, Great Ormond Street Hospital for Children, London, UK.
  • Houlden H; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
J Med Genet ; 60(8): 791-796, 2023 08.
Article in En | MEDLINE | ID: mdl-36581449
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Humans Language: En Journal: J Med Genet Year: 2023 Type: Article Affiliation country: United kingdom
Fulltext
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XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Humans Language: En Journal: J Med Genet Year: 2023 Type: Article Affiliation country: United kingdom