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Rothmund-Thomson syndrome, a disorder far from solved.
Front Aging. 2023 Nov 10;4:1296409. doi: 10.3389/fragi.2023.1296409. eCollection 2023.
Front Aging. 2023.
PMID: 38021400
Free PMC article.
Review.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
Di Lazzaro Filho R, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warman M, Passos-Bueno MR, Hoch NC, Bertola DR.
Di Lazzaro Filho R, et al.
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
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