{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:20:02Z","timestamp":1777803602293,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T00:00:00Z","timestamp":1583971200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010147","name":"Asociaci\u00f3n Espa\u00f1ola de Pediatr\u00eda","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010147","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Short telomere syndromes are a heterogenous spectrum of disorders leading to premature cellular aging. These may involve bone marrow failure, adult\u2010onset 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\u00a0years of age and autoimmune cytopenias at 8\u00a0years of age. He was found to have short telomeres, and genetic testing confirmed a hemizygous mutation NM_001363.4: c.\u2010142C\u00a0&gt;\u00a0G in <jats:italic>DKC1<\/jats:italic> gene. He subsequently developed cirrhosis with severe portal hypertension and hepatopulmonary syndrome, prompting liver transplantation at 11\u00a0years of age. He remains well 10\u00a0years after transplant with no progression of bone marrow failure or progressive lung disease. In conclusion, short telomere syndromes should be considered as a potential cause of pediatric liver disease of unknown etiology, and in severe cases, isolated liver transplantation may be both appropriate and successful.<\/jats:p>","DOI":"10.1111\/petr.13695","type":"journal-article","created":{"date-parts":[[2020,3,13]],"date-time":"2020-03-13T06:21:21Z","timestamp":1584080481000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Successful liver transplantation in short telomere syndromes without bone marrow failure due to <i>DKC1<\/i> mutation"],"prefix":"10.1111","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2536-9149","authenticated-orcid":false,"given":"Rodrigo","family":"del Br\u00edo Castillo","sequence":"first","affiliation":[{"name":"Pediatric Liver Service Hospital Infantil Universitario La Paz Madrid 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