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A novel homozygous variant in CANT1 causes Desbuquois dysplasia type 1 in a Chinese family and review of literatures.
Kuang, Lele; Liu, Bin; Peng, Rui; Xi, Di; Gao, Yuping.
Afiliação
  • Kuang L; Departments of Assisted Reproduction, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University Shanghai, China.
  • Liu B; Departments of Assisted Reproduction, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University Shanghai, China.
  • Peng R; Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University Shanghai, China.
  • Xi D; Departments of Assisted Reproduction, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University Shanghai, China.
  • Gao Y; Departments of Assisted Reproduction, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University Shanghai, China.
Int J Clin Exp Pathol ; 13(8): 2137-2142, 2020.
Article em En | MEDLINE | ID: mdl-32922611

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article