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Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
Yeung, Kit San; Ho, Matthew Sai Pong; Lee, So Lun; Kan, Anita Sik Yau; Chan, Kelvin Yuen Kwong; Tang, Mary Hoi Yin; Mak, Christopher Chun Yu; Leung, Gordon Ka Chun; So, Po Lam; Pfundt, Rolph; Marshall, Christian R; Scherer, Stephen W; Choufani, Sanaa; Weksberg, Rosanna; Hon-Yin Chung, Brian.
Afiliação
  • Yeung KS; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.
  • Ho MSP; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.
  • Lee SL; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.
  • Kan ASY; Department of Paediatrics and Adolescent Medicine, The Duchess of Kent Children's Hospital, Hong Kong.
  • Chan KYK; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong.
  • Tang MHY; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong.
  • Mak CCY; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong.
  • Leung GKC; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong.
  • So PL; Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.
  • Pfundt R; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.
  • Marshall CR; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.
  • Scherer SW; Department of Obstetrics and Gynecology, Tuen Mun Hospital, Hong Kong.
  • Choufani S; Department of Human Genetics, Donders Institute, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Weksberg R; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Hon-Yin Chung B; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
J Med Genet ; 55(12): 847-852, 2018 12.
Article em En | MEDLINE | ID: mdl-30007940
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Gêmeos Monozigóticos / Cromossomos Humanos Par 19 / Deficiências do Desenvolvimento / Transtornos Cromossômicos / Dissomia Uniparental Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Newborn Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Gêmeos Monozigóticos / Cromossomos Humanos Par 19 / Deficiências do Desenvolvimento / Transtornos Cromossômicos / Dissomia Uniparental Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Newborn Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article