Article
X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation.
Thorax - 1 Nov 2001
Safa W F, Lestringant G G, Frossard P M
Abstract excerpt
Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterised by lesions of the skin and appendages. Bone marrow failure occurs in 80% of patients. The gene for the X-linked form of DC has been identified on Xq28 and designated as DKC1. Pulmonary manifestations have rarely been reported. It is not known whether there is a respiratory disease peculiar to these patients and, if so, whether it...
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