A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
Hulleman, John D
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. [electronic resource] - Molecular vision 2016 - 73-81 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. [electronic resource] - Molecular vision 2016 - 73-81 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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