Article
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.
BMC medical genetics - 1 Feb 2017
Esposito Gabriella, Testa Francesco, Zacchia Miriam, Crispo Anna Alessia, Di Iorio Valentina, Capolongo Giovanna, Rinaldi Luca, D'Antonio Marcella, Fioretti Tiziana, Iadicicco Pasquale, Rossi Settimio, Franzè Annamaria, Marciano Elio, Capasso Giovanbattista, Simonelli Francesca, Salvatore Francesco
Abstract excerpt
BACKGROUND: 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...
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