Putative severe branchpoint variant in BBS1, together with a mild missense variant, underlies non-syndromic RP in four unrelated individuals

Series of patients with nonsyndromic retinitis pigmentosa (RP) due to IFT140 was investigated in this study.

The clinical features of a known mendelian disease can occasionally be mimicked by the random co-occurrence of 2 different . . .

In this study we utilized two model systems, the zebrafish and mouse, to evaluate the function of a specific form of BBS (BBS3).