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FGF9 mutation causes craniosynostosis along with multiple synostoses.
Rodriguez-Zabala, Maria; Aza-Carmona, Miriam; Rivera-Pedroza, Carlos I; Belinchón, Alberta; Guerrero-Zapata, Isabel; Barraza-García, Jimena; Vallespin, Elena; Lu, Min; Del Pozo, Angela; Glucksman, Marc J; Santos-Simarro, Fernando; Heath, Karen E.
Afiliação
  • Rodriguez-Zabala M; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
  • Aza-Carmona M; 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.
  • Belinchón A; Multidisciplinary Skeletal dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
  • Guerrero-Zapata I; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
  • Barraza-García J; Multidisciplinary Skeletal dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
  • Vallespin E; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
  • Lu M; 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.
  • Glucksman MJ; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
  • Santos-Simarro F; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
  • Heath KE; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain.
Hum Mutat ; 38(11): 1471-1476, 2017 11.
Article em En | MEDLINE | ID: mdl-28730625

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Sinostose / Craniossinostoses / Fator 9 de Crescimento de Fibroblastos / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Sinostose / Craniossinostoses / Fator 9 de Crescimento de Fibroblastos / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article