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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Cormier-Daire, Valerie; AlSayed, Moeenaldeen; Alves, Inês; Bengoa, Joana; Ben-Omran, Tawfeg; Boero, Silvio; Fredwall, Svein; Garel, Catherine; Guillen-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mortier, Geert; Sousa, Sérgio B; Mohnike, Klaus.
Afiliação
  • Cormier-Daire V; Department of Clinical Genetics, Centre of Reference for Constitutional Bone Diseases (MOC), INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris Centre University, Paris, France. valerie.cormier-daire@inserm.fr.
  • AlSayed M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
  • Alves I; Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.
  • Bengoa J; ANDO Portugal, Evora, Portugal.
  • Ben-Omran T; Hôpital Necker-Enfants Malades, Paris, France.
  • Boero S; Division of Genetics and Genomic Medicine, Sidra Medicine & Hamad Medical Corporation, Doha, Qatar.
  • Fredwall S; Pediatric Orthopaedic and Traumatology Unit, Istituto Giannina Gaslini, Genoa, Italy.
  • Garel C; TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.
  • Guillen-Navarro E; Department of Radiology, Armand-Trousseau Hospital, Paris, France.
  • Irving M; Medical Genetics Section, Department of Pediatrics, Virgen de la Arrixaca University Hospital, IMIB-Arrixaca, University of Murcia-UMU, Murcia, Spain.
  • Lampe C; CIBERER-ISCIII, Madrid, Spain.
  • Maghnie M; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Mortier G; Clinic of Neuropediatrics, Epileptology and Social Pediatrics, University Hospital Giessen and Marburg, Giessen, Germany.
  • Sousa SB; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
  • Mohnike K; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16147, Genoa, Italy.
Orphanet J Rare Dis ; 17(1): 293, 2022 07 27.
Article em En | MEDLINE | ID: mdl-35897040
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acondroplasia Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Female / Humans / Pregnancy País como assunto: Europa Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acondroplasia Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Female / Humans / Pregnancy País como assunto: Europa Idioma: En Ano de publicação: 2022 Tipo de documento: Article