Primary brain calcification: an international study reporting novel variants and associated phenotypes - Ramos, Eliana Marisa; Carecchio, Miryam; Lemos, Roberta; Ferreira, Joana; Legati, Andrea; Sears, Renee Louise; Hsu, Sandy Chan; Panteghini, Celeste; Magistrelli, Luca; Salsano, Ettore; Esposito, Silvia; Taroni, Franco; et al. (European journal of human genetics : EJHG, 2018)
Keywords: Adolescent; Adult; Aged; Aged, 80 and over; Basal ganglia; Brain Diseases - genetics; Brain Diseases - physiopathology; Calcification; Calcinosis - genetics; Calcinosis - physiopathology; Central nervous system diseases; Child; Children; Cognitive ability; Cognitive Dysfunction - genetics; Cognitive Dysfunction - physiopathology; Female; Genetic counseling; Genetic Variation - genetics; Heterozygote; Humans; Life Sciences; Male; Mental disorders; Microvasculature; Middle Aged; Movement disorders; Mutation - genetics; Neural coding; Pedigree; Phenotype; Phenotypes; Proto-Oncogene Proteins c-sis - genetics; Receptor, Platelet-Derived Growth Factor beta - genetics; Receptors, G-Protein-Coupled - drug effects; Receptors, Virus - drug effects; Sodium-Phosphate Cotransporter Proteins, Type III - genetics; Xenotropic and Polytropic Retrovirus Receptor; Young Adult