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Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.
Wei, Xianda; Huang, Guori; Gui, Baoheng; Xie, Bobo; Chen, Shaoke; Fan, Xin; Chen, Yujun.
Afiliação
  • Wei X; Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.
  • Huang G; The Guangxi Health Commission Key Laboratory of Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.
  • Gui B; The Guangxi Health Commission Key Laboratory of Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.
  • Xie B; Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.
  • Chen S; Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.
  • Fan X; The Guangxi Health Commission Key Laboratory of Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.
  • Chen Y; Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.
Mol Genet Genomic Med ; 10(4): e1901, 2022 04.
Article em En | MEDLINE | ID: mdl-35235708
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acrocefalossindactilia / Disostose Craniofacial / Craniossinostoses / Receptor Tipo 2 de Fator de Crescimento de Fibroblastos Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acrocefalossindactilia / Disostose Craniofacial / Craniossinostoses / Receptor Tipo 2 de Fator de Crescimento de Fibroblastos Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos