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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2023
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| 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 |