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Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva.
Kou, Samuel; De Cunto, Carmen; Baujat, Geneviève; Wentworth, Kelly L; Grogan, Donna R; Brown, Matthew A; Di Rocco, Maja; Keen, Richard; Al Mukaddam, Mona; le Quan Sang, Kim-Hanh; Masharani, Umesh; Kaplan, Frederick S; Pignolo, Robert J; Hsiao, Edward C.
Afiliación
  • Kou S; Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, University of California- San Francisco, 513 Parnassus Ave., HSE901G, San Francisco, CA, 94143-0794, USA.
  • De Cunto C; Pediatric Rheumatology Section, Department of Pediatrics, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
  • Baujat G; Department de Genetique Institut IMAGINE and Hôpital Necker-Enfants Malades, Paris, France.
  • Wentworth KL; Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, University of California- San Francisco, 513 Parnassus Ave., HSE901G, San Francisco, CA, 94143-0794, USA.
  • Grogan DR; Division of Endocrinology and Metabolism, Zuckerberg San Francisco General Hospital, San Francisco, California, USA.
  • Brown MA; Clementia Pharmaceuticals, an Ipsen Company, Montreal, Canada.
  • Di Rocco M; Guy's & St. Thomas' NHS Foundation Trust and King's College London NIHR Biomedical Research Centre, London, England.
  • Keen R; Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.
  • Al Mukaddam M; Centre for Metabolic Bone Disease, Royal National Orthopaedic Hospital, Stanmore, UK.
  • le Quan Sang KH; Department of Medicine, Perelman School Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Masharani U; Department of Orthopaedic Surgery and The Center of Research for FOP & Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Kaplan FS; Department de Genetique Institut IMAGINE and Hôpital Necker-Enfants Malades, Paris, France.
  • Pignolo RJ; Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, University of California- San Francisco, 513 Parnassus Ave., HSE901G, San Francisco, CA, 94143-0794, USA.
  • Hsiao EC; Department of Medicine, Perelman School Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Orphanet J Rare Dis ; 15(1): 193, 2020 07 29.
Article en En | MEDLINE | ID: mdl-32727600
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miositis Osificante Tipo de estudio: Clinical_trials / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Humans / Middle aged Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miositis Osificante Tipo de estudio: Clinical_trials / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Humans / Middle aged Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido