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Article

Delayed identification of compound heterozygous (Phe508del/Arg117His) cystic fibrosis variants in a patient awaiting liver transplantation.

BMJ case reports - 21 Nov 2023

Hu Mostin, McLellan Thomas, Grogono Dorothy, Karia Sumit, Herre Jurgen

Abstract excerpt

A man in his 60s undergoing liver transplant assessment was referred to the respiratory team after a thoracic CT scan revealed diffuse tree-in-bud changes. He had a history of infertility, chronic pancreatitis and liver cirrhosis with portal hypertension. Broncho-alveolar lavage was positive for Pseudomonas aeruginosa Genetic screening found two cystic fibrosis transmembrane conductance regulator variants:...

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Identifiers

PMID: 37989334
DOI: 10.1136/bcr-2023-255602
PMCID: PMC11107079

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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