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Article

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

1 Aug 2022

Abstract excerpt

Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by a triad of mucocutaneous features that include abnormal skin pigmentation, nail dystrophy, and oral leucoplakia. Despite the identification of several genetic variants that cause DC, a significant proportion of probands remain without a molecular diagnosis. In a cohort of eight independent DC-affected families, we have...

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PMID: 35931051
DOI: 10.1016/j.ajhg.2022.06.014

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