A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

por Uehara, Daniela T, Freitas, Érika L, Alves, Leandro U, Mazzeu, Juliana F, Auricchio, Maria TBM, Tabith, Alfredo, Monteiro, Mário LR, Rosenberg, Carla, Mingroni-Netto, Regina C
Publicado 2015

Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment

por Ramos, Luiza L. P., Monteiro, Fabiola P., Sampaio, Leticia P. B., Costa, Larissa A., Ribeiro, Mara D. O., Freitas, Erika L., Kitajima, Joao P., Kok, Fernando
Publicado 2019