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Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders

20 Oct 2016

Abstract excerpt

The telomere biology disorder (TBD) dyskeratosis congenita (DC) is a multisystem inherited bone marrow failure syndrome and cancer predisposition syndrome caused by germline mutations in telomere biology genes ( DKC1 , TINF2 , TERC , TERT , NOP10 , NHP2 , CTC1 , WRAP53 , ACD , RTEL1 and PARN ). The classic triad of reticular skin pigmentation, dysplastic nails and oral leukoplakia is diagnostic of DC [1, 2]....

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PMID: 27824607
DOI: 10.1183/13993003.01640-2016

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