TY - JOUR AU - Alves, Rita Maria AU - Uva, Paolo AU - Veiga, Marielza F. AU - Oppo, Manuela AU - Zschaber, Fabiana C. R. AU - Porcu, Giampiero AU - Porto, Henrique P. AU - Persico, Ivana AU - Onano, Stefano AU - Cuccuru, Gianmauro AU - Atzeni, Rossano AU - Vieira, Lauro C. N. AU - Pires, Marcos V. A. AU - Cucca, Francesco AU - Toralles, Maria Betânia P. AU - Angius, Andrea AU - Crisponi, Laura PY - 2019 DA - 2019/01/14 TI - Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report JO - BMC Medical Genetics SP - 16 VL - 20 IS - 1 AB - KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG abnormalities. So far, there have been over 100 cases of KBG syndrome reported. SN - 1471-2350 UR - https://doi.org/10.1186/s12881-019-0745-7 DO - 10.1186/s12881-019-0745-7 ID - Alves2019 ER -