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Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.
Feng, Biyun; Li, Xin; Zhang, Qianwen; Wang, Yirou; Gu, Shili; Yao, Ru-En; Li, Zhiying; Gao, Shiyang; Chang, Guoying; Li, Qun; Li, Niu; Fu, Lijun; Wang, Jian; Wang, Xiumin.
Afiliação
  • Feng B; Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Li X; Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Zhang Q; Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Wang Y; Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Gu S; Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Yao RE; Department of Genetic Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Li Z; Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Gao S; Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Chang G; Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Li Q; Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Li N; Department of Genetic Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Fu L; Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Wang J; Department of Genetic Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
  • Wang X; Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China. wangxiumin1019@126.com.
Orphanet J Rare Dis ; 18(1): 284, 2023 09 11.
Article em En | MEDLINE | ID: mdl-37697378

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Cardiopatias Congênitas Limite: Child / Child, preschool / Humans / Infant Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Cardiopatias Congênitas Limite: Child / Child, preschool / Humans / Infant Idioma: En Ano de publicação: 2023 Tipo de documento: Article