A Primary Gastrointestinal Presentation and Novel Genetic Variant of Dyskeratosis Congenita in a Pediatric Patient

Dyskeratosis congenita (DC) is a rare telomerase disorder affecting high turnover cells. Malfunction of protective proteins in DC results in patient genomes with shortened germline telomeres leading to genetic instability, cellular apoptosis, and overall cellular lifespan degradation. Classically, r...

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Detalles Bibliográficos
Autores principales: Lee, Jeffrey, Cheeseman, Edward, Matheus, Maria, Kasi, Nagraj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158458/
https://www.ncbi.nlm.nih.gov/pubmed/37168640
http://dx.doi.org/10.1097/PG9.0000000000000242

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158458/
https://www.ncbi.nlm.nih.gov/pubmed/37168640
http://dx.doi.org/10.1097/PG9.0000000000000242

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