Does DKC1 mutation suffice to define the phenotype severity of hoyeraal-hreidarsson syndrome? - Valera, Elvis Terci; Brassesco, Maria Sol; Ferraz, Sabrine Teixeira; Roxo Junior, Persio; Santana, Barbara Lemos; Vulliamy, Tom; Calado, Rodrigo Tocantins; Scrideli, Carlos Alberto; Tone, Luiz Gonzaga (Open Journal of Blood Diseases, 2013)