Clinical and Molecular Heterogeneity of RTEL1 Deficiency

Typical features of dyskeratosis congenita (DC) resulting from excessive telomere shortening include bone marrow failure (BMF), mucosal fragility, and pulmonary or liver fibrosis. In more severe cases, immune deficiency and recurring infections can add to disease severity. RTEL1 deficiency has recen...

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Detalhes bibliográficos
Publicado no:Front Immunol
Main Authors: Speckmann, Carsten, Sahoo, Sushree Sangita, Rizzi, Marta, Hirabayashi, Shinsuke, Karow, Axel, Serwas, Nina Kathrin, Hoemberg, Marc, Damatova, Natalja, Schindler, Detlev, Vannier, Jean-Baptiste, Boulton, Simon J., Pannicke, Ulrich, Göhring, Gudrun, Thomay, Kathrin, Verdu-Amoros, J. J., Hauch, Holger, Woessmann, Wilhelm, Escherich, Gabriele, Laack, Eckart, Rindle, Liliana, Seidl, Maximilian, Rensing-Ehl, Anne, Lausch, Ekkehart, Jandrasits, Christine, Strahm, Brigitte, Schwarz, Klaus, Ehl, Stephan R., Niemeyer, Charlotte, Boztug, Kaan, Wlodarski, Marcin W.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017
Assuntos:
Immunology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5410638/
https://ncbi.nlm.nih.gov/pubmed/28507545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2017.00449
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