Article
Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.
Neuropediatrics - 1 Apr 2015
Santos-Silva Rita, Passas Armanda, Rocha Carla, Figueiredo Rita, Mendes-Ribeiro Jose, Fernandes Susana, Biskup Saskia, Leão Miguel
Abstract excerpt
Loss of function of GPR56 causes a specific brain malformation called the bilateral frontoparietal polymicrogyria (BFPP), which has typical clinical and neuroradiological findings. So far, 35 families and 26 independent mutations have been described.We present a Portuguese 5-year-old boy, born from nonconsanguineous parents, with BFPP. This patient has a novel GPR56 mutation (R271X) and an unusual phenotype,...
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