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A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.
Gutierrez-Rodrigues, Fernanda; Masri, Nohad; Chouery, Eliane; Diamond, Carrie; Jalkh, Nadine; Vicente, Alana; Kajigaya, Sachiko; Abillama, Fayez; Bejjani, Noha; Serhal, Wassim; Calado, Rodrigo T; Young, Neal S; Farhat, Hussein; Coussa, Marie Louise.
Afiliação
  • Gutierrez-Rodrigues F; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, 20892-1202, USA.
  • Masri N; LAU Gilbert and Rose-Marie Chagoury School of Medicine, LAUMC/RH, Zahar Street, Achrafieh, Beirut, 1110, Lebanon.
  • Chouery E; Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
  • Diamond C; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, 20892-1202, USA.
  • Jalkh N; Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
  • Vicente A; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, 20892-1202, USA.
  • Kajigaya S; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, 20892-1202, USA.
  • Abillama F; LAU Gilbert and Rose-Marie Chagoury School of Medicine, LAUMC/RH, Zahar Street, Achrafieh, Beirut, 1110, Lebanon.
  • Bejjani N; LAU Gilbert and Rose-Marie Chagoury School of Medicine, LAUMC/RH, Zahar Street, Achrafieh, Beirut, 1110, Lebanon.
  • Serhal W; LAU Gilbert and Rose-Marie Chagoury School of Medicine, LAUMC/RH, Zahar Street, Achrafieh, Beirut, 1110, Lebanon.
  • Calado RT; Department of Medical Imaging, Hematology, and Clinical Oncology, University of São Paulo, Ribeirão Preto, SP, Brazil.
  • Young NS; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, 20892-1202, USA.
  • Farhat H; LAU Gilbert and Rose-Marie Chagoury School of Medicine, LAUMC/RH, Zahar Street, Achrafieh, Beirut, 1110, Lebanon. hussein.farhat@laumcrh.com.
  • Coussa ML; LAU Gilbert and Rose-Marie Chagoury School of Medicine, LAUMC/RH, Zahar Street, Achrafieh, Beirut, 1110, Lebanon.
Hum Genet ; 138(11-12): 1323-1330, 2019 Dec.
Article em En | MEDLINE | ID: mdl-31677132
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Telômero / DNA Helicases / Consanguinidade / Doenças Genéticas Inatas / Homozigoto / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Telômero / DNA Helicases / Consanguinidade / Doenças Genéticas Inatas / Homozigoto / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos