Dyskeratosis congenita with heterozygous RTEL1 mutations presenting with fibrotic hypersensitivity pneumonitis

Dyskeratosis congenita is a rare genetic disorder of telomere insufficiency characterized by a mucocutaneous triad of nail dystrophy, abnormal skin pigmentation, and mucosal leukoplakia. Early diagnosis is important for multidisciplinary approach to its complications including bone marrow failure, m...

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Detalles Bibliográficos
Autores principales: Han, Jinhee, Song, Jin Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841051/
https://www.ncbi.nlm.nih.gov/pubmed/36655009
http://dx.doi.org/10.1016/j.rmcr.2023.101810

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841051/
https://www.ncbi.nlm.nih.gov/pubmed/36655009
http://dx.doi.org/10.1016/j.rmcr.2023.101810

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