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Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
Travessa, André M; Dias, Patrícia; Rosmaninho-Salgado, Joana; Aza-Carmona, Miriam; Moldovan, Oana; Díaz-González, Francisca; Godinho, Fátima; Romeu, José Carlos; Oliveira-Ramos, Filipa; do Céu Barreiros, Maria; Sousa, Sérgio B; Heath, Karen E; Sousa, Ana Berta.
Afiliación
  • Travessa AM; Medical Genetics Department and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal; Institute of Histology and Developmental Biology, Faculty of Medicine, University of Lisbon, Lisbon, Portugal. Electronic address: andre.travessa@chln.min-saude.pt.
  • Dias P; Medical Genetics Department and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
  • Rosmaninho-Salgado J; Medical Genetics Unit and ERN-BOND, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Aza-Carmona M; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autonóma de Madrid (UAM), and CIBERER, ISCIII, Madrid, Spain; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario La Paz, UAM, Madrid, Spain.
  • Moldovan O; Medical Genetics Department and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
  • Díaz-González F; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autonóma de Madrid (UAM), and CIBERER, ISCIII, Madrid, Spain; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario La Paz, UAM, Madrid, Spain.
  • Godinho F; Department of Rheumatology, Hospital Garcia de Orta, Almada, Portugal; Associação Portuguesa de Osteogénese Imperfeita (APOI), Lisbon, Portugal.
  • Romeu JC; Department of Rheumatology, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
  • Oliveira-Ramos F; Rheumatology Research Unit, Molecular Medicine Institute, Faculty of Medicine, University of Lisbon, Lisbon, Portugal; Laboratory of Basic Immunology, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
  • do Céu Barreiros M; Associação Portuguesa de Osteogénese Imperfeita (APOI), Lisbon, Portugal.
  • Sousa SB; Medical Genetics Unit and ERN-BOND, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Heath KE; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autonóma de Madrid (UAM), and CIBERER, ISCIII, Madrid, Spain; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario La Paz, UAM, Madrid, Spain.
  • Sousa AB; Medical Genetics Department and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal; Rheumatology Research Unit, Molecular Medicine Institute, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Eur J Med Genet ; 66(11): 104867, 2023 Nov.
Article en En | MEDLINE | ID: mdl-37839784
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Serpinas Límite: Adolescent / Adult / Humans / Newborn Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Serpinas Límite: Adolescent / Adult / Humans / Newborn Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article