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

• Main Authors: Cristina Olivieri (Author), Anna Mondino (Author), Matteo Chinello (Author), Alessandra Risso (Author), Enrico Finale (Author), Marina Lanciotti (Author), Andrea Guala (Author)
• Format: Book
• Published: MDPI AG, 2017-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...