Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins

Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins

Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia), pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS), also...

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Bibliographic Details
Main Authors: Cristina Olivieri, Anna Mondino, Matteo Chinello, Alessandra Risso, Enrico Finale, Marina Lanciotti, Andrea Guala
Format: Article
Language:English
Published: MDPI AG 2017-10-01
Series:Pediatric Reports
Subjects:
Dyskeratosis Congenital, Hoyeraal-Hreidarsson Syndrome, gene mutation, phenotypic variability
Online Access:http://www.pagepress.org/journals/index.php/pr/article/view/7301

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http://www.pagepress.org/journals/index.php/pr/article/view/7301

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