Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita
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DOI: 10.3390/genes13030496
Abstract: 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,… read more here.
Keywords: dyskeratosis; dyskeratosis congenita; manifestations rare; multisystemic manifestations ... See more keywords