Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and seri...

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Detalles Bibliográficos
Autores principales: Callea, Michele, Martinelli, Diego, Cammarata-Scalisi, Francisco, Grimaldi, Chiara, Jilani, Houweyda, Grimaldi, Piercesare, Willoughby, Colin Eric, Morabito, Antonino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8953471/
https://www.ncbi.nlm.nih.gov/pubmed/35328050
http://dx.doi.org/10.3390/genes13030496

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