WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
Coussa, R G
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. [electronic resource] - Clinical genetics Aug 2013 - 150-9 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1399-0004
10.1111/cge.12196 doi
Adolescent
Adult
Child
Child, Preschool
Ciliopathies
Consanguinity
Cytoskeletal Proteins
Exome
Female
Genes, Recessive
Genetic Association Studies
Genotype
High-Throughput Nucleotide Sequencing
Humans
Infant
Intracellular Signaling Peptides and Proteins
Kidney Diseases, Cystic--genetics
Leber Congenital Amaurosis--genetics
Male
Mutation
Optic Atrophies, Hereditary--genetics
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Proteins--genetics
Retinitis Pigmentosa--genetics
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. [electronic resource] - Clinical genetics Aug 2013 - 150-9 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1399-0004
10.1111/cge.12196 doi
Adolescent
Adult
Child
Child, Preschool
Ciliopathies
Consanguinity
Cytoskeletal Proteins
Exome
Female
Genes, Recessive
Genetic Association Studies
Genotype
High-Throughput Nucleotide Sequencing
Humans
Infant
Intracellular Signaling Peptides and Proteins
Kidney Diseases, Cystic--genetics
Leber Congenital Amaurosis--genetics
Male
Mutation
Optic Atrophies, Hereditary--genetics
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Proteins--genetics
Retinitis Pigmentosa--genetics