Dyskeratosis Congenita and the Telomere Biology Disorders
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Springer International Publishing
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http://link.springer.com/content/pdf/10.1007/978-3-319-61421-2_6
Reference168 articles.
1. Aalfs CM, van den Berg H, Barth PG, Hennekam RC (1995) The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. Eur J Pediatr 154(4):304–308
2. Abramowsky C, Romero R, Heffron T (2003) Pathology of noncirrhotic portal hypertension: clinicopathologic study in pediatric patients. Pediatr Dev Pathol 6(5):421–426. https://doi.org/10.1007/s10024-003-1002-8
3. Alder JK, Cogan JD, Brown AF, Anderson CJ, Lawson WE, Lansdorp PM, Phillips JA, Loyd JE, Chen JJ-L, Armanios M, Artandi SE (2011) Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. PLoS Genet 7(3):e1001352
4. Alder JK, Stanley SE, Wagner CL, Hamilton M, Hanumanthu VS, Armanios M (2015) Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis. Chest 147(5):1361–1368. https://doi.org/10.1378/chest.14-1947
5. Allsopp RC, Harley CB (1995) Evidence for a critical telomere length in senescent human fibroblasts. Exp Cell Res 219(1):130–136. https://doi.org/10.1006/excr.1995.1213
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