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Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review.
Li, Ying; Zhang, Chuangwen; Zhang, Hongyu; Feng, Weiqi; Wang, Qiuji; Fan, Ruixin.
Afiliación
  • Li Y; Department of Cardiac Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
  • Zhang C; Department of Cardiac Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
  • Zhang H; Department of Cardiac Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
  • Feng W; Department of Cardiac Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
  • Wang Q; Department of Cardiac Surgery, South China University of Technology, Guangzhou, China.
  • Fan R; Department of Cardiac Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
BMC Med Genomics ; 15(1): 27, 2022 02 12.
Article en En | MEDLINE | ID: mdl-35151321
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glucuronosiltransferasa Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glucuronosiltransferasa Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido