TY  - GEN
AU  - Coussa,R G
AU  - Otto,E A
AU  - Gee,H-Y
AU  - Arthurs,P
AU  - Ren,H
AU  - Lopez,I
AU  - Keser,V
AU  - Fu,Q
AU  - Faingold,R
AU  - Khan,A
AU  - Schwartzentruber,J
AU  - Majewski,J
AU  - Hildebrandt,F
AU  - Koenekoop,R K
TI  - WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome
SN  - 1399-0004
PY  - 2014///0221
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Ciliopathies
KW  - Consanguinity
KW  - Cytoskeletal Proteins
KW  - Exome
KW  - Female
KW  - Genes, Recessive
KW  - Genetic Association Studies
KW  - Genotype
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Intracellular Signaling Peptides and Proteins
KW  - Kidney Diseases, Cystic
KW  - genetics
KW  - Leber Congenital Amaurosis
KW  - Male
KW  - Mutation
KW  - Optic Atrophies, Hereditary
KW  - Pedigree
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - Proteins
KW  - Retinitis Pigmentosa
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/cge.12196
ER  -