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TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Li, Guozhuang; Strong, Alanna; Wang, Haojun; Kim, Ji-Sun; Watson, Deborah; Zhao, Sen; Vaccaro, Courtney; Hartung, Erum; Hakonarson, Hakon; Zhang, Terry Jianguo; Giampietro, Philip F; Wu, Nan.
Afiliação
  • Li G; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Strong A; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.
  • Wang H; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Kim JS; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Watson D; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Zhao S; Department of Urology, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China.
  • Vaccaro C; Department of Pediatrics, Rutgers Robert Wood Johnson Medical Center, New Brunswick, New Jersey, USA.
  • Hartung E; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Hakonarson H; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Zhang TJ; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.
  • Giampietro PF; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Wu N; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 188(12): 3469-3481, 2022 12.
Article em En | MEDLINE | ID: mdl-36161696
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Escoliose Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Escoliose Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos