Coussa, R G <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.12196  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>Ciliopathies<br/>Consanguinity<br/>Cytoskeletal Proteins<br/>Exome<br/>Female<br/>Genes, Recessive<br/>Genetic Association Studies<br/>Genotype<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Infant<br/>Intracellular Signaling Peptides and Proteins<br/>Kidney Diseases, Cystic--genetics<br/>Leber Congenital Amaurosis--genetics<br/>Male<br/>Mutation<br/>Optic Atrophies, Hereditary--genetics<br/>Pedigree<br/>Phenotype<br/>Polymorphism, Single Nucleotide<br/>Proteins--genetics<br/>Retinitis Pigmentosa--genetics