Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.

Autor: Alves RM; Postgraduate Program in Interactive Processes of Organs and Systems - Federal University of Bahia, Salvador, Brazil.; Research group Epi-Genétic, Salvador, Bahia, Brazil., Uva P; Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy., Veiga MF; Postgraduate Program in Interactive Processes of Organs and Systems - Federal University of Bahia, Salvador, Brazil.; EEG Service and Clinical Outpatient of Epilepsy, University Hospital Complex Professor Edgard Santos (C-HUPES), Federal University of Bahia, Salvador, Bahia, Brazil., Oppo M; Department of Biomedical Science, University of Sassari, Sassari, Italy., Zschaber FCR; Research group Epi-Genétic, Salvador, Bahia, Brazil., Porcu G; Research group Epi-Genétic, Salvador, Bahia, Brazil., Porto HP; Research group Epi-Genétic, Salvador, Bahia, Brazil., Persico I; Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria di Cagliari, 09042, Monserrato, Cagliari, Italy., Onano S; Department of Biomedical Science, University of Sassari, Sassari, Italy.; Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria di Cagliari, 09042, Monserrato, Cagliari, Italy., Cuccuru G; Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy., Atzeni R; Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy., Vieira LCN; Clinic Ponto Alto diagnostic by Image, São Marcos, Salvador, Bahia, Brazil., Pires MVA; Research group Epi-Genétic, Salvador, Bahia, Brazil.; Faculty of Medicine of the ABC, São Paulo, Brazil., Cucca F; Department of Biomedical Science, University of Sassari, Sassari, Italy.; Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria di Cagliari, 09042, Monserrato, Cagliari, Italy., Toralles MBP; Postgraduate Program in Interactive Processes of Organs and Systems - Federal University of Bahia, Salvador, Brazil., Angius A; Department of Biomedical Science, University of Sassari, Sassari, Italy. andrea.angius@irgb.cnr.it.; Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria di Cagliari, 09042, Monserrato, Cagliari, Italy. andrea.angius@irgb.cnr.it., Crisponi L; Department of Biomedical Science, University of Sassari, Sassari, Italy.; Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria di Cagliari, 09042, Monserrato, Cagliari, Italy.

Publikováno v: BMC medical genetics [BMC Med Genet] 2019 Jan 14; Vol. 20 (1), pp. 16. Date of Electronic Publication: 2019 Jan 14.