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Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report.
Zou, Ting-Ting; Sun, Hua-Qin; Zhu, Yu; He, Tian-Tian; Ling, Wen-Wu; Zhu, Hong-Mei; Lin, Zi-Yuan; Liu, Yan-Yan; Liu, Shan-Ling; Wang, He; Zhang, Xue-Mei.
  • Zou TT; Department of Pediatric Infectious Diseases, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
  • Sun HQ; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
  • Zhu Y; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
  • He TT; SCU-CUHK Joint Laboratory for Reproductive Medicine, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
  • Ling WW; Department of Pediatric Infectious Diseases, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
  • Zhu HM; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
  • Lin ZY; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
  • Liu YY; Department of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No.20, South Section 3, Renmin Road, Chengdu, Sichuan, China.
  • Liu SL; Department of Ultrasound, West China University Hospital, Sichuan University, Chengdu, 610041, China.
  • Wang H; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
  • Zhang XM; Department of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No.20, South Section 3, Renmin Road, Chengdu, Sichuan, China.
BMC Pediatr ; 22(1): 329, 2022 06 07.
Article en En | MEDLINE | ID: mdl-35668413
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fallo Hepático / Hipotonía Muscular Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans País como asunto: Asia Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fallo Hepático / Hipotonía Muscular Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans País como asunto: Asia Idioma: En Año: 2022 Tipo del documento: Article