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The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.
Zeng, Lan; Wang, Jin; Zhu, Hui; Huang, Yu; Deng, Yi; Wei, Ping; Nie, Jing; Tang, Bei; Chen, Ai; Zhu, Shuyao.
Afiliação
  • Zeng L; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
  • Wang J; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
  • Zhu H; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
  • Huang Y; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
  • Deng Y; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
  • Wei P; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
  • Nie J; Department of Children's Health Care, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
  • Tang B; Department of Ultrasound, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
  • Chen A; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
  • Zhu S; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
Mol Genet Genomic Med ; 12(1): e2313, 2024 Jan.
Article em En | MEDLINE | ID: mdl-37942564
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rabdomiossarcoma Embrionário / Proteínas Monoméricas de Ligação ao GTP / Síndrome de Noonan Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rabdomiossarcoma Embrionário / Proteínas Monoméricas de Ligação ao GTP / Síndrome de Noonan Idioma: En Ano de publicação: 2024 Tipo de documento: Article