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Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.
Qiu, Zilong; Chang, Wan-Ting; Chou, Yu-Ching; Wen, Kuo-Chang; Ziying, Yang; Yuen, Kayiu; Cai, Xiongying; Chang, Tung-Yao; Lai, Hung-Cheng; Sung, Pi-Lin.
Afiliação
  • Qiu Z; BGI Genomics, BGI-Shenzhen, Shenzhen, 518083, China.
  • Chang WT; Taiji Clinic, Taipei, Taiwan.
  • Chou YC; Taiji Clinic, Taipei, Taiwan.
  • Wen KC; Department of Obstetrics and Gynecology, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
  • Ziying Y; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China.
  • Yuen K; BGI Hong Kong Ltd., 16 Dai Fu Street, Tai Po Industrial Estate, Hong Kong SAR, NT, China.
  • Cai X; BGI Hong Kong Ltd., 16 Dai Fu Street, Tai Po Industrial Estate, Hong Kong SAR, NT, China.
  • Chang TY; Taiji Clinic, Taipei, Taiwan.
  • Lai HC; Department of Obstetrics and Gynecology, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
  • Sung PL; Department of Obstetrics and Gynecology, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan. Electronic address: 19345@s.tmu.edu.tw.
Taiwan J Obstet Gynecol ; 61(3): 535-538, 2022 May.
Article em En | MEDLINE | ID: mdl-35595454
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Noonan Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Noonan Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2022 Tipo de documento: Article