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Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
Powell, Laura; Olinger, Eric; Wedderburn, Sarah; Ramakumaran, Vijayalakshmi Salem; Kini, Usha; Clayton-Smith, Jill; Ramsden, Simon C; Rice, Sarah J; Barroso-Gil, Miguel; Wilson, Ian; Cowley, Lorraine; Johnson, Sally; Harris, Elizabeth; Montgomery, Tara; Bertoli, Marta; Boltshauser, Eugen; Sayer, John A.
Afiliación
  • Powell L; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Olinger E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Wedderburn S; Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK.
  • Ramakumaran VS; Clinical Genetics, Oxford University Hospital, Oxford, UK.
  • Kini U; Clinical Genetics, Oxford University Hospital, Oxford, UK.
  • Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.
  • Ramsden SC; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.
  • Rice SJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Barroso-Gil M; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Wilson I; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Cowley L; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Johnson S; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Harris E; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Montgomery T; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Bertoli M; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Boltshauser E; Paediatric Neurology (Emeritus), Children's University Hospital, Zürich, Switzerland.
  • Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Brain Commun ; 3(3): fcab163, 2021.
Article en En | MEDLINE | ID: mdl-34423300
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Brain Commun Año: 2021 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Brain Commun Año: 2021 Tipo del documento: Article País de afiliación: Reino Unido