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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. Among authors: schaller a. 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
Late-onset severe long QT syndrome.
Asatryan B, Schaller A, Bartholdi D, Medeiros-Domingo A. Asatryan B, et al. Among authors: schaller a. Ann Noninvasive Electrocardiol. 2018 Jul;23(4):e12517. doi: 10.1111/anec.12517. Epub 2017 Nov 30. Ann Noninvasive Electrocardiol. 2018. PMID: 29194874 Free PMC article.
382 results