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Additional file 1: Table S1. of 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

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posted on 2017-02-01, 05:00 authored by Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D’Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovanbattista Capasso, Francesca Simonelli, Francesco Salvatore
Bioinformatically-predicted putative effects of the variants linked to the BBS phenotype. Table S2 Electrolytes and acid base balance in BBS patients. Table S3 Correlation between renal structural alterations and genotype in BBS patients. Table S4 Results of pure tone audiometry. Table S5 DPOAE results. (DOCX 94 kb)

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Italian Ministry of University and Research

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    BMC Medical Genetics

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    Bardet-Biedl syndromeBBS1, BBS2 and BBS10 gene variantsCiliopathyRenal, ocular and audiovestibular phenotype

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