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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5410638/
https://www.ncbi.nlm.nih.gov/pubmed/28507545
http://dx.doi.org/10.3389/fimmu.2017.00449

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