Associated Papers
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E et al.
Italian Journal of Pediatrics, 2019
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.
Esposito G et al.
Bmc Medical Genetics, 2017
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