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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

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Title: Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Authors: Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK. meena.balasubramanian@nhs.net.; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK. meena.balasubramanian@nhs.net., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Albaba S; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Richardson R; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Trust, Newcastle, UK., Yates TM; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Douzgou S; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK., Armstrong R; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK., Sansbury FH; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Burke KB; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Fry AE; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Ragge N; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Department of Biological and Medical Sciences, Oxford Brookes University, Oxford, UK., Sharif S; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Foster A; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., De Sandre-Giovannoli A; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.; Department of Medical Genetics, La Timone Children's Hospital, Marseille, France.; Biological Resource Center (CRB-TAC), Assistance Publique Hôpitaux de Marseille, La Timone Children's Hospital, Marseille, France., Elouej S; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Vasudevan P; Leicester Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester, UK., Mansour S; Clinical Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK., Wilson K; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Heide S; Clinical Genetics Service, GH Pitié-Salpêtrière, Pitié Salpêtrière Hospital, APHP Sorbonne University, Paris, France., Nava C; Clinical Genetics Service, GH Pitié-Salpêtrière, Pitié Salpêtrière Hospital, APHP Sorbonne University, Paris, France., Keren B; Clinical Genetics Service, GH Pitié-Salpêtrière, Pitié Salpêtrière Hospital, APHP Sorbonne University, Paris, France., Demirdas S; Department of Clinical Genetics, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands., Vincent M; Service de Génétique Médicale, CHU de Nantes, 44000, Nantes, France.; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000, Nantes, France., Isidor B; Service de Génétique Médicale, CHU de Nantes, 44000, Nantes, France.; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000, Nantes, France., Küry S; Service de Génétique Médicale, CHU de Nantes, 44000, Nantes, France.; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000, Nantes, France., Schouten M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Leenders E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, USA., Haeringen AV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Scheffner T; Klinik für Kinder- und Jugendmedizin, Perinatal- und Stoffwechselzentrum, Reutlingen, Germany., Debray FG; Metabolic Unit-Department of Medical Genetics, CHU & University Liège Domaine L Sart-Tilman Bât B35, B-4000, Liège, Belgium., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Palafoll MIV; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Newbury-Ecob R; University Hospitals Bristol NHS Foundation Trust, Clinical Genetics, St. Michael's Hospital, Bristol, UK., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Apr; Vol. 29 (4), pp. 625-636. Date of Electronic Publication: 2021 Jan 12.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
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  Data: <searchLink fieldCode="AU" term="%22Balasubramanian+M%22">Balasubramanian M</searchLink>; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK. meena.balasubramanian@nhs.net.; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK. meena.balasubramanian@nhs.net.<br /><searchLink fieldCode="AU" term="%22Dingemans+AJM%22">Dingemans AJM</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Albaba+S%22">Albaba S</searchLink>; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Richardson+R%22">Richardson R</searchLink>; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Trust, Newcastle, UK.<br /><searchLink fieldCode="AU" term="%22Yates+TM%22">Yates TM</searchLink>; 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