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Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
Chang, Irene J; Sun, Angela; Bouchard, Maryse L; Kamps, Shawn E; Hale, Susan; Done, Stephen; Goldberg, Michael J; Glass, Ian A.
Afiliação
  • Chang IJ; Department of Medical Genetics, University of Washington Medical Center, Seattle, Washington.
  • Sun A; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital and University of Washington, Seattle, Washington.
  • Bouchard ML; Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, Seattle, Washington.
  • Kamps SE; Department of Radiology, Seattle Children's Hospital, Seattle, Washington.
  • Hale S; Department of Radiology, University of Washington Medical Center, Seattle, Washington.
  • Done S; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital and University of Washington, Seattle, Washington.
  • Goldberg MJ; Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, Seattle, Washington.
  • Glass IA; Department of Radiology, Seattle Children's Hospital, Seattle, Washington.
Am J Med Genet A ; 176(7): 1675-1679, 2018 07.
Article em En | MEDLINE | ID: mdl-30160829
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acondroplasia / Receptor Tipo 3 de Fator de Crescimento de Fibroblastos / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acondroplasia / Receptor Tipo 3 de Fator de Crescimento de Fibroblastos / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article