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A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.
Willis, Brooke R; Lee, Mianne; Rethanavelu, Kavitha; Fung, Jasmine L F; Wong, Rosanna M S; Hui, Peter; Yeung, Kit S; Lo, Ivan F M; Chung, Brian H Y.
Afiliação
  • Willis BR; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
  • Lee M; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
  • Rethanavelu K; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
  • Fung JLF; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
  • Wong RMS; Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong SAR, China.
  • Hui P; Department of Pediatric Cardiology, Queen Mary Hospital, Hong Kong SAR, China.
  • Yeung KS; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
  • Lo IFM; Department of Health, Clinical Genetic Service, Hong Kong SAR, China.
  • Chung BHY; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
Am J Med Genet A ; 182(6): 1329-1335, 2020 06.
Article em En | MEDLINE | ID: mdl-32198975
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Cardiovasculares / Doenças do Tecido Conjuntivo / Fibrilina-1 / Síndrome de Marfan Tipo de estudo: Prognostic_studies Limite: Adult / Child / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Cardiovasculares / Doenças do Tecido Conjuntivo / Fibrilina-1 / Síndrome de Marfan Tipo de estudo: Prognostic_studies Limite: Adult / Child / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article