A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. [electronic resource]
Producer: 20161013Description: 73-81 p. digitalISSN:- 1090-0535
- Abnormalities, Multiple -- genetics
- Adolescent
- Bardet-Biedl Syndrome -- genetics
- Blotting, Western
- Consanguinity
- DNA Mutational Analysis
- Female
- Group II Chaperonins -- genetics
- HEK293 Cells
- Heart Defects, Congenital -- genetics
- High-Throughput Nucleotide Sequencing
- Humans
- Hydrocolpos -- genetics
- Male
- Mutation, Missense
- Pedigree
- Plasmids
- Polydactyly -- genetics
- Retinal Pigment Epithelium -- cytology
- Retinitis Pigmentosa -- genetics
- Siblings
- Tomography, Optical Coherence
- Uterine Diseases -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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