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Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.
Liu, Gang; Chen, Xue; Sun, Xiantao; Liu, Hu; Zhao, Kanxing; Chang, Qinglin; Pan, Xinyuan; Wang, Xiuying; Yuan, Songtao; Liu, Qinghuai; Zhao, Chen.
Afiliação
  • Liu G; Department of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital University of Medical Sciences, Beijing, China.
  • Chen X; Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University and State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China ; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong.
  • Sun X; Department of Ophthalmology, Children's Hospital of Zhengzhou, Zhengzhou, China.
  • Liu H; Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University and State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
  • Zhao K; Laboratory of Molecular Genetics, Tianjin Eye Hospital, Tianjin Key Laboratory of Ophthalmology and Visual Science, Tianjin Medical University, Tianjin, China.
  • Chang Q; Department of Radiology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital University of Medical Sciences, Beijing, China.
  • Pan X; Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University and State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
  • Wang X; Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University and State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
  • Yuan S; Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University and State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
  • Liu Q; Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University and State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
  • Zhao C; Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University and State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
Mol Vis ; 20: 15-23, 2014.
Article em En | MEDLINE | ID: mdl-24426772

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fibrose / Oftalmopatias Hereditárias / Transtornos da Motilidade Ocular / Cinesinas / Povo Asiático / Células Germinativas / Mosaicismo / Mutação Tipo de estudo: Etiology_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2014 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fibrose / Oftalmopatias Hereditárias / Transtornos da Motilidade Ocular / Cinesinas / Povo Asiático / Células Germinativas / Mosaicismo / Mutação Tipo de estudo: Etiology_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2014 Tipo de documento: Article