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Article

Successful liver transplantation in short telomere syndromes without bone marrow failure due to DKC1 mutation.

Pediatric transplantation - 1 May 2020

Del Brío Castillo Rodrigo, Bleesing Jacob, McCormick Thomas, Squires James E, Mazariegos George V, Squires Judy, McKiernan Patrick J

Abstract excerpt

Short telomere syndromes are a heterogenous spectrum of disorders leading to premature cellular aging. These may involve bone marrow failure, adult-onset idiopathic pulmonary fibrosis, and liver disease, and classical entities such as dyskeratosis congenita. We report a patient who presented with common variable immunodeficiency at 3 years of age and autoimmune cytopenias at 8 years of age. He was found to have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32166868
DOI: 10.1111/petr.13695

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