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A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.
Hu, Qian; Mai, Jingqun; Xiang, Qinqin; Zhou, Bin; Liu, Shanling; Wang, Jing.
Afiliação
  • Hu Q; Laboratory of Molecular Translational Medicine, Centre for Translational Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Clinical Research Center for Birth Defects of Sichuan Province, West China Second University Hosp
  • Mai J; Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, 610041, WH, China.
  • Xiang Q; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, 610041, WH, China.
  • Zhou B; Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, 610041, WH, China.
  • Liu S; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, 610041, WH, China.
  • Wang J; Laboratory of Molecular Translational Medicine, Centre for Translational Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Clinical Research Center for Birth Defects of Sichuan Province, West China Second University Hosp
BMC Pediatr ; 22(1): 82, 2022 02 07.
Article em En | MEDLINE | ID: mdl-35130870
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Catarata / Microftalmia / Cardiopatias Congênitas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Catarata / Microftalmia / Cardiopatias Congênitas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article País de publicação: Reino Unido