Your browser doesn't support javascript.
loading
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M; Brady, Angela F; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti; Johnson, Diana S; Kariminejad, Ariana; Koch, Johannes; Kraenzlin, Marius; Lahiri, Nayana; Lozic, Bernarda; Manzur, Adnan Y; Morton, Jenny E V; Pilch, Jacek; Pollitt, Rebecca C; Schreiber, Gudrun; Shannon, Nora L; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S; Witsch-Baumgartner, Martina; Zschocke, Johannes; Pope, F Michael; Bönnemann, Carsten G; Rohrbach, Marianne.
Afiliação
  • Giunta C; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
  • Baumann M; Department of Pediatrics I, Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Lindert U; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
  • Abdalla EM; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
  • Brady AF; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK.
  • Collins J; Mercy Clinic Pediatric Neurology, Springfield, Missouri, and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Dastgir J; Pediatric Neurology, Goryeb Children's Hospital, Morristown, New Jersey, USA.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Ghali N; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK.
  • Johnson DS; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK.
  • Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
  • Koch J; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Kraenzlin M; Medical Faculty of the University of Basel, and Clinic for Endocrinology, Diabetes & Metabolism, University Hospital Basel, Basel, Switzerland.
  • Lahiri N; South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, UK.
  • Lozic B; Department of Pediatrics University Hospital Centre Split, Split, Croatia.
  • Manzur AY; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.
  • Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Pilch J; Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland.
  • Pollitt RC; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Schreiber G; Department of Pediatric Neurology, Children's Hospital, Kassel, Germany.
  • Shannon NL; Nottingham Clinical Genetics Service, Nottingham City Hospital, Nottingham, UK.
  • Sobey G; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK.
  • Vandersteen A; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.
  • van Dijk FS; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK.
  • Witsch-Baumgartner M; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Zschocke J; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Pope FM; North West Thames Regional Genetics Service, Kennedy Galton Centre, London, UK.
  • Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Rohrbach M; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
Genet Med ; 20(1): 42-54, 2018 01.
Article em En | MEDLINE | ID: mdl-28617417
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Peptidilprolil Isomerase / Síndrome de Ehlers-Danlos / Alelos / Estudos de Associação Genética / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Peptidilprolil Isomerase / Síndrome de Ehlers-Danlos / Alelos / Estudos de Associação Genética / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça