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DYNC2H1 variants cause Leber congenital amaurosis without syndromic features.
Lee, Junwon; Lee, Hyunjoo; Lee, Young-Mock; Kuht, Helen J; Thomas, Mervyn G; Kim, Sang Jin; Lee, Seung-Tae; Han, Jinu.
Afiliação
  • Lee J; Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
  • Lee H; Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
  • Lee YM; Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
  • Kuht HJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK.
  • Thomas MG; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK.
  • Kim SJ; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Lee ST; Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
  • Han J; Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Clin Genet ; 100(1): 111-113, 2021 07.
Article em En | MEDLINE | ID: mdl-33755199
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Amaurose Congênita de Leber / Dineínas do Citoplasma / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Amaurose Congênita de Leber / Dineínas do Citoplasma / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article