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] Filters: Author is Méndez-Vidal, Cristina and Keyword is Bardet-Biedl Syndrome [Clear All Filters]
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet. 2014;15:143. doi:10.1186/s12863-014-0143-2.