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pro vyhledávání: '"Matheus Augusto Araújo Castro"'
Autor:
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
Publikováno v:
Journal of Medical Genetics. :jmg-2022
Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I, with biallelic variants inANAPC1and juvenile cataracts, and type II, with biallel