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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Díaz-González, Francisca; Parrón-Pajares, Manuel; Lucas-Castro, Elsa; Modamio-Høybjør, Silvia; Sentchordi-Montané, Lucia; Seidel, Verónica; Prieto, Pablo; Tarraso-Urios, Guillermo; Codina-Sola, Marta; Cueto-González, Anna M; Ballesta-Martínez, Mary J; Santos-Simarro, Fernando; Sousa, Sergio B; Heath, Karen E.
Afiliação
  • Díaz-González F; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.
  • Parrón-Pajares M; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.
  • Lucas-Castro E; European Research Network on Rare BONe Disorders (ERN-BOND).
  • Modamio-Høybjør S; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.
  • Sentchordi-Montané L; European Research Network on Rare BONe Disorders (ERN-BOND).
  • Seidel V; Department of Radiology, Hospital Universitario La Paz, Madrid, Spain.
  • Prieto P; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.
  • Tarraso-Urios G; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.
  • Codina-Sola M; European Research Network on Rare BONe Disorders (ERN-BOND).
  • Cueto-González AM; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.
  • Ballesta-Martínez MJ; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.
  • Santos-Simarro F; European Research Network on Rare BONe Disorders (ERN-BOND).
  • Sousa SB; Department of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.
  • Heath KE; Department of Pediatrics, Universidad Complutense, Madrid, Spain.
Clin Genet ; 104(1): 100-106, 2023 07.
Article em En | MEDLINE | ID: mdl-37121912
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Proteínas Ribossômicas Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Proteínas Ribossômicas Idioma: En Ano de publicação: 2023 Tipo de documento: Article