TY - JOUR AU - Esposito, Gabriella AU - Testa, Francesco AU - Zacchia, Miriam AU - Crispo, Anna Alessia AU - Di Iorio, Valentina AU - Capolongo, Giovanna AU - Rinaldi, Luca AU - D’Antonio, Marcella AU - Fioretti, Tiziana AU - Iadicicco, Pasquale AU - Rossi, Settimio AU - Franzè, Annamaria AU - Marciano, Elio AU - Capasso, Giovanbattista AU - Simonelli, Francesca AU - Salvatore, Francesco PY - 2017 DA - 2017/02/01 TI - Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants JO - BMC Medical Genetics SP - 10 VL - 18 IS - 1 AB - Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS. SN - 1471-2350 UR - https://doi.org/10.1186/s12881-017-0372-0 DO - 10.1186/s12881-017-0372-0 ID - Esposito2017 ER -