Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Autor: Gazdagh G; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Gonzalez AMC; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Rodriguez MP; Hospital Universitari Son Espases, 07120, Palma, Illes Balears, Spain., Chaudhry A; Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada., Madruga M; Hospital Viamed Santa Ángela De la Cruz, Sevilla, 41014, Spain., Vansenne F; Department of Clinical Genetics, University Medical Center Groningen, 9713 GZ, Groningen, The Netherlands., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Curie A; Reference Center for Intellectual Disability From Rrare Causes, Department of Child Neurology, Woman Mother and Child Hospital, Hospices Civils de Lyon, Lyon Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Université de Lyon, Bron, France., Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institute and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Trajkova S; Department of Medical Sciences, Medical Genetics and Rare diseases, University of Turin, Turin, Italy., Angelovska ES; Department of Endocronology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia., McWilliam C; NHS Tayside, Ninewells Hospital, Dundee, UK., Wyatt PR; Department of Obstetrics and Gynecology, York Central Hospital, Toronto, Canada., O'Driscoll M; West Midlands Regional Genetics Service, Birmingham, UK., Atton G; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Bergman AK; Hannover Medical School, Institute of Human Genetics, Hannover, Germany., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany.; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Mewasingh LD; Department of Paediatric Neurology, Imperial College Healthcare NHS Trust, London, UK., López AG; Unidad de Dismorfologia, Unidad de Gestión Clínica de Pediatría, Hospital Universitario Virgen del Rocio, Sevilla, Pediatric department, University of Seville, Spain., Alonso-Luengo O; Sección de Neurología Pediátrica, Unidad de Gestión Clínica de Pediatría. Hospital Universitario Virgen del Rocio, Sevilla, Pediatric department, University of Seville, Spain., Wai HA; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Rohde O; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Boiroux P; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier CNRS, Montpellier, France., Debant A; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier CNRS, Montpellier, France., Schmidt S; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier CNRS, Montpellier, France., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1722-1740. Date of Electronic Publication: 2023 Mar 29.