HIGHLIGHTS
- who: Hemanth Tummala from the UK UK have published the research: Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita, in the Journal: (JOURNAL)
- what: The authors report the first evidence of a digenic inheritance pattern in a series of individuals who come from eight unrelated families and have homogeneous DC features caused by germline variants in the TYMS-ENOSF1 locus. The affected individuals and families included in this study had all been recruited to the London Dyskeratosis Congenita registry. On the basis of the stark TYMS deficiency the authors observed in the . . .
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