John D Hulleman Annie Nguyen V L Ramprasad Sakthivel Murugan Ravi Gupta Avinash Mahindrakar Ravi Angara Chandrasekhar Sankurathri V Vinod Mootha
Mol Vis
2016 Jan 24;22:73-81.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/26900326/
Abnormalities, Multiple / genetics Bardet-Biedl Syndrome / genetics Group II Chaperonins / genetics Heart Defects, Congenital / genetics Hydrocolpos / genetics Mutation, Missense Polydactyly / genetics Retinitis Pigmentosa / genetics Uterine Diseases / genetics
Abnormalities, Multiple / genetics Bardet-Biedl Syndrome / genetics Group II Chaperonins / genetics Heart Defects, Congenital / genetics Hydrocolpos / genetics Mutation, Missense Polydactyly / genetics Retinitis Pigmentosa / genetics Uterine Diseases / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adolescent Blotting, Western Consanguinity DNA Mutational Analysis Female HEK293 Cells High-Throughput Nucleotide Sequencing Humans Male Pedigree Plasmids Retinal Pigment Epithelium / cytology Siblings Tomography, Optical Coherence MKKS protein, human Group II Chaperonins McKusick Kaufman syndrome
PMC4734152
26900326
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome
2016