Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
Di Lazzaro Filho, Ricardo, Yamamoto, Guilherme Lopes, Silva, Tiago J, Rocha, Leticia A, Linnenkamp, Bianca D W, Castro, Matheus Augusto Araújo, Bartholdi, Deborah, Schaller, André, Leeb, Tosso, Kelmann, Samantha, Utagawa, Claudia Y, Steiner, Carlos E, Steinmetz, Leandra, Honjo, Rachel Sayuri, Kim, Chong Ae, Wang, Lisa, Abourjaili-Bilodeau, Raphaël, Campeau, Philippe M, Warman, Matthew, Passos-Bueno, Maria Rita, Hoch, Nicolas C, Bertola, Debora Romeo
Published in Journal of medical genetics (01.11.2023)
Published in Journal of medical genetics (01.11.2023)
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Journal Article
Rothmund-Thomson syndrome, a disorder far from solved
Martins, Davi Jardim, Di Lazzaro Filho, Ricardo, Bertola, Debora Romeo, Hoch, Nícolas Carlos
Published in Frontiers in aging (10.11.2023)
Published in Frontiers in aging (10.11.2023)
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Journal Article