Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene

Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene

The pathogenic variants in the telomerase reverse transcriptase (TERT) gene have been identified in adults with idiopathic pulmonary fibrosis, while their connection to childhood diffuse lung disease has not yet been described. Within this study, we present a case of a five-month-old, previously hea...

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Bibliographic Details
Main Authors: Visekruna J, Basa M, Grba T, Andjelkovic M, Pavlovic S, Nathan N, Sovtic A
Format: Article
Language:English
Published: Sciendo 2024-09-01
Series:Balkan Journal of Medical Genetics
Subjects:
cytomegalovirus (cmv)
diffuse lung disease
early-onset respiratory failure
the tert gene variants
Online Access:https://doi.org/10.2478/bjmg-2024-0008

Internet

https://doi.org/10.2478/bjmg-2024-0008

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