@article {1538346,
	title = {WDR34, a candidate gene for non-syndromic rod-cone dystrophy},
	journal = {Clin Genet},
	volume = {99},
	number = {2},
	year = {2021},
	month = {2021 Feb},
	pages = {298-302},
	abstract = {Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60\% to 70\% of cases, with novel gene defects possibly accounting for the unsolved cases. Homozygosity mapping and whole-exome sequencing applied to a case of autosomal recessive non-syndromic RCD from a consanguineous union identified a homozygous variant in WDR34. Mutations in WDR34 have been previously associated with severe ciliopathy syndromes possibly associated with a retinal dystrophy. This is the first report of a homozygous mutation in WDR34 associated with non-syndromic RCD.},
	issn = {1399-0004},
	doi = {10.1111/cge.13872},
	author = {Solaguren-Beascoa, Maria and Bujakowska, Kinga M and M{\'e}j{\'e}case, C{\'e}cile and Emmenegger, Lisa and Orhan, Elise and Neuill{\'e}, Marion and Mohand-Sa{\"\i}d, Saddek and Condroyer, Christel and Lancelot, Marie-Elise and Michiels, Christelle and Demontant, Vanessa and Antonio, Aline and Letexier, M{\'e}lanie and Saraiva, Jean-Paul and Lonjou, Christine and Carpentier, Wassila and L{\'e}veillard, Thierry and Pierce, Eric A and Dollfus, H{\'e}l{\`e}ne and Sahel, Jos{\'e}-Alain and Bhattacharya, Shomi S and Audo, Isabelle and Zeitz, Christina}
}
