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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
J Med Genet. 2023 Nov;60(11):1127-1132. doi: 10.1136/jmg-2022-109119. Epub 2023 Apr 13.
J Med Genet. 2023.
PMID: 37055165
Rothmund-Thomson syndrome, a disorder far from solved.
Martins DJ, Di Lazzaro Filho R, Bertola DR, Hoch NC.
Martins DJ, et al. Among authors: di lazzaro filho r.
Front Aging. 2023 Nov 10;4:1296409. doi: 10.3389/fragi.2023.1296409. eCollection 2023.
Front Aging. 2023.
PMID: 38021400
Free PMC article.
Review.
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