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Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene.
Guo, Yufan; Su, Qunyan; Zhu, Xueying; Wang, Jianda; Lou, Yuting; Miao, Pu; Wang, Ye; Zhang, Bijun; Jin, Yuting; Gao, Liuyan; Xu, Xiaoxiao; Chen, Wangyang; Sheng, Min; Feng, Jianhua.
Afiliación
  • Guo Y; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
  • Su Q; Taizhou Women and Children's Hospital, Hangzhou, Zhejiang, China.
  • Zhu X; Lanxi People's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
  • Wang J; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
  • Lou Y; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
  • Miao P; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
  • Wang Y; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
  • Zhang B; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
  • Jin Y; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
  • Gao L; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
  • Xu X; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
  • Chen W; Kaiumph Medical Diagnostics Co., Ltd., Beijing, China.
  • Sheng M; Kaiumph Medical Diagnostics Co., Ltd., Beijing, China.
  • Feng J; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Am J Med Genet A ; 188(3): 836-846, 2022 03.
Article en En | MEDLINE | ID: mdl-34889507
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Neuropatía Axonal Gigante Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Neuropatía Axonal Gigante Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China