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PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Bownass, Lucy; Abbs, Stephen; Armstrong, Ruth; Baujat, Genevieve; Behzadi, Gry; Berentsen, Ragnhild Drage; Burren, Christine; Calder, Alistair; Cormier-Daire, Valérie; Newbury-Ecob, Ruth; Foulds, Nicola; Juliusson, Petur B; Kant, Sarina G; Lefroy, Henrietta; Mehta, Sarju G; Merckoll, Else; Michot, Caroline; Monsell, Fergal; Offiah, Amaka C; Richards, Allan; Rosendahl, Karen; Rustad, Cecilie F; Shears, Deborah; Tveten, Kristian; Wellesley, Diana; Wordsworth, Paul; Smithson, Sarah.
Afiliación
  • Bownass L; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
  • Abbs S; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Armstrong R; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Baujat G; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.
  • Behzadi G; Department of Radiology, Stavanger University Hospital, Stavanger, Norway.
  • Berentsen RD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  • Burren C; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
  • Calder A; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Cormier-Daire V; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.
  • Newbury-Ecob R; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
  • Foulds N; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, UK.
  • Juliusson PB; Department of Health Registries, Norwegian Institute of Public Health, Bergen, Norway.
  • Kant SG; Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Lefroy H; Department of Paediatrics, Haukeland University Hospital, Bergen, Norway.
  • Mehta SG; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
  • Merckoll E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Michot C; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Monsell F; Department of Radiology, Oslo University Hospital, Oslo, Norway.
  • Offiah AC; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.
  • Richards A; Department of Paediatric Orthopaedics, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
  • Rosendahl K; University of Sheffield, Academic Unit of Child Health, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Rustad CF; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Shears D; Section of Paediatric Radiology, Haukeland University Hospital, Bergen, Norway.
  • Tveten K; Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Wellesley D; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Wordsworth P; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Smithson S; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, UK.
Am J Med Genet A ; 179(9): 1884-1894, 2019 09.
Article en En | MEDLINE | ID: mdl-31313512
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Sulfato Adenililtransferasa / Enanismo / Complejos Multienzimáticos / Anomalías Musculoesqueléticas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Sulfato Adenililtransferasa / Enanismo / Complejos Multienzimáticos / Anomalías Musculoesqueléticas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido