Publication
Biallelic variants inDNA2cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
Ricardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J Silva, Leticia A Rocha, Bianca D W Linnenkamp, Matheus Augusto Araújo Castro, Deborah Bartholdi, André Schaller, Tosso Leeb, Samantha Kelmann, Claudia Y Utagawa, Carlos E Steiner, Leandra Steinmetz, Rachel Sayuri Honjo, Chong Ae Kim, Lisa Wang, Raphaël Abourjaili-Bilodeau, Philippe M Campeau, Matthew Warman, Maria Rita Passos-Bueno, Nicolas C Hoch, Debora Romeo Bertola
Journal of Medical Genetics, April 2023, BMJ
DOI: 10.1136/jmg-2022-109119