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T. Vulliamy, R. Beswick, M. Kirwan, A. Marrone, et al., “Mutations in the Telomerase Component NHP2 Cause the Premature Ageing Syndrome Dyskeratosis Congenital,” Proceedings of the National Academy Sciences of the USA, Vol. 105, No. 23, 2008, pp. 8073-8078. doi:10.1073/pnas.0800042105

has been cited by the following article:

• TITLE: Does DKC1 Mutation Suffice to Define the Phenotype Severity of Hoyeraal-Hreidarsson Syndrome?

  AUTHORS: Elvis Terci Valera, María Sol Brassesco, Sabrine Teixeira Ferraz, Pérsio Roxo Jr., Barbara Lemos-Santana, Tom Vulliamy, Rodrigo Tocantins Calado, Carlos Alberto Scrideli, Luiz Gonzaga Tone

  KEYWORDS: DKC1 Mutation; Dyskeratosis Congenital; Hoyeraal-Hreidarsson Syndrome; Bone Marrow Failure

  JOURNAL NAME: Open Journal of Blood Diseases, Vol.3 No.1, March 29, 2013

  ABSTRACT: Both dyskeratosis congenita (DC) and Hoyeraal-Hreidarsson Syndrome (HHS) are rare inherited bone marrow failure conditions. HHS is considered to be a variant of DC in which neurological deficits and immunodeficiencies are also present. We describe a very interesting familial cluster where an invariant point mutation of DKC1 located in the exon 11 is observed in the carrier mother and in two decedent males. The older child developed the classical phenotype of HHS at a very early age. The second affected child remains poorly symptomatic, with only mild haematological changes. Telomere shortening, with different severity, is also present in both cases. This paper discusses the clinical spectrum of inherited BM failure syndromes from the perspective different clinical presentation within a family with a DKC1 mutation.