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Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.
Zhang, Lei; Hu, Yanqiu; Lu, Jingjing; Zhao, Peiwei; Zhang, Xiankai; Tan, Li; Li, Jun; Xiao, Cuiping; Zeng, Linkong; He, Xuelian.
Afiliação
  • Zhang L; Precision Medical Center, Huazhong University of Science & Technology, Wuhan, China.
  • Hu Y; Precision Medical Center, Huazhong University of Science & Technology, Wuhan, China.
  • Lu J; Dermatology Department, Huazhong University of Science & Technology, Wuhan, China.
  • Zhao P; Precision Medical Center, Huazhong University of Science & Technology, Wuhan, China.
  • Zhang X; Precision Medical Center, Huazhong University of Science & Technology, Wuhan, China.
  • Tan L; Precision Medical Center, Huazhong University of Science & Technology, Wuhan, China.
  • Li J; Otolaryngology Department, Huazhong University of Science & Technology, Wuhan, China.
  • Xiao C; Precision Medical Center, Huazhong University of Science & Technology, Wuhan, China.
  • Zeng L; NeonatologyDepartment, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
  • He X; Precision Medical Center, Huazhong University of Science & Technology, Wuhan, China.
Front Genet ; 13: 931833, 2022.
Article em En | MEDLINE | ID: mdl-36003334
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China