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Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.
Yang, Linfeng; Guo, Bin; Zhu, Weiwei; Wang, Lei; Han, Bingjuan; Che, Yena; Guo, Lingfei.
Afiliação
  • Yang L; Jinan Maternal and Child Care Hospital, No.2, Jianguo xiao jing-san Road, Jinan, 250001, Shandong Province, China.
  • Guo B; Jinan Maternal and Child Care Hospital, No.2, Jianguo xiao jing-san Road, Jinan, 250001, Shandong Province, China.
  • Zhu W; Jinan Central Hospital Affiliated to Shandong University, No. 105, Jiefang Road 250013, Jinan, 250011, Shandong Province, China.
  • Wang L; Jinan Maternal and Child Care Hospital, No.2, Jianguo xiao jing-san Road, Jinan, 250001, Shandong Province, China.
  • Han B; Jinan Maternal and Child Care Hospital, No.2, Jianguo xiao jing-san Road, Jinan, 250001, Shandong Province, China.
  • Che Y; Department of MRI, Shandong Medical Imaging Research Institute, Cheeloo College of Medicine, Shandong University, Jing-wu Road No. 324, Jinan, 250021, Shandong Province, People's Republic of China. 363292358@qq.com.
  • Guo L; Department of MRI, Shandong Medical Imaging Research Institute, Cheeloo College of Medicine, Shandong University, Jing-wu Road No. 324, Jinan, 250021, Shandong Province, People's Republic of China. glfsci@163.com.
BMC Pediatr ; 20(1): 287, 2020 06 09.
Article em En | MEDLINE | ID: mdl-32517662
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Deficiências do Desenvolvimento Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Child / Female / Humans / Infant País/Região como assunto: Asia Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Deficiências do Desenvolvimento Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Child / Female / Humans / Infant País/Região como assunto: Asia Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China