Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74
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DOI: 10.1111/cge.13962
Abstract: Bardet‐Biedl syndrome (BBS) is a rare ciliopathy characterized by rod‐cone dystrophy, postaxial polydactyly, truncal obesity and renal anomalies with autosomal recessive inheritance. We describe a 6‐year‐old male with early onset retinal dystrophy, postaxial polydactyly, truncal… read more here.
Keywords: bardet biedl; variant predicted; affect splicing; predicted affect ... See more keywords
Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22084154
Abstract: It is estimated that up to one-third of all variants causing inherited diseases affect splicing; however, their deleterious effects and roles in disease pathogenesis are often not fully characterized. Given their prevalence and the development… read more here.
Keywords: variants predicted; affect splicing; pcca pccb; predicted affect ... See more keywords