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Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
Barraza-García, J; Rivera-Pedroza, C I; Hisado-Oliva, A; Belinchón-Martínez, A; Sentchordi-Montané, L; Duncan, E L; Clark, G R; Del Pozo, A; Ibáñez-Garikano, K; Offiah, A; Prieto-Matos, P; Cormier-Daire, V; Heath, K E.
Affiliation
  • Barraza-García J; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
  • Rivera-Pedroza CI; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain.
  • Hisado-Oliva A; Multidisciplinary Skeletal dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
  • Belinchón-Martínez A; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
  • Sentchordi-Montané L; Multidisciplinary Skeletal dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
  • Duncan EL; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
  • Clark GR; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain.
  • Del Pozo A; Multidisciplinary Skeletal dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
  • Ibáñez-Garikano K; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
  • Offiah A; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain.
  • Prieto-Matos P; Multidisciplinary Skeletal dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
  • Cormier-Daire V; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
  • Heath KE; Multidisciplinary Skeletal dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
Clin Genet ; 92(1): 91-98, 2017 Jul.
Article in En | MEDLINE | ID: mdl-28067412
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Full text: 1 Collection: 01-internacional Health context: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles / 7_ODS3_muertes_prevenibles_nacidos_ninos Database: MEDLINE Main subject: Osteochondrodysplasias / Ribonucleoproteins / Genetic Predisposition to Disease / Dwarfism / Apoptosis Regulatory Proteins / Musculoskeletal Abnormalities Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Clin Genet Year: 2017 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Health context: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles / 7_ODS3_muertes_prevenibles_nacidos_ninos Database: MEDLINE Main subject: Osteochondrodysplasias / Ribonucleoproteins / Genetic Predisposition to Disease / Dwarfism / Apoptosis Regulatory Proteins / Musculoskeletal Abnormalities Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Clin Genet Year: 2017 Document type: Article