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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 2024 Jun 11;111(7):1494. doi: 10.1016/j.ajhg.2024.05.022

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

Hemanth Tummala , Amanda Walne, Roberto Buccafusca, Jenna Alnajar, Anita Szabo, Peter Robinson, Allyn McConkie-Rosell, Meredith Wilson, Suzanne Crowley, Veronica Kinsler, Anna-Maria Ewins, Pradeepa M Madapura, Manthan Patel, Nikolas Pontikos, Veryan Codd, Tom Vulliamy, Inderjeet Dokal
PMCID: PMC11267513  PMID: 38866021

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(The American Journal of Human Genetics 109, 1472–1483; August 4, 2022)

The image in panel B of Figure 1 has been amended at the request of the parents of family 1.


Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

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