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Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E, Paolacci S, D'Esposito F, Abeshi A, Ziccardi L, Falsini B, Colombo L, Iarossi G, Pilotta A, Boccone L, Guerri G, Monica M, Marta B, Maltese PE, Buzzonetti L, Rossetti L, Bertelli M. Manara E, et al. Among authors: rossetti l. Ital J Pediatr. 2019 Jun 13;45(1):72. doi: 10.1186/s13052-019-0659-1. Ital J Pediatr. 2019. PMID: 31196119 Free PMC article.
Oguchi type I caused by a homozygous missense variation in the SAG gene.
Colombo L, Abeshi A, Maltese PE, Frecer V, Miertuš J, Cerra D, Bertelli M, Rossetti L. Colombo L, et al. Among authors: rossetti l. Eur J Med Genet. 2019 Sep;62(9):103548. doi: 10.1016/j.ejmg.2018.09.015. Epub 2018 Sep 27. Eur J Med Genet. 2019. PMID: 30267901
501 results