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A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome

Molecular vision, Vol. 22, Pages 73-81, 2016

PMID: 26900326

To identify the causative mutation in two siblings from a consanguineous family in India with retinitis pigmentosa (RP) and polydactyly without other findings of Bardet-Biedl syndrome (BBS). We also performed functional characterization of the mutant protein to explore its role in this limited form of BBS.

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  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4734152

 

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