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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.
Hum Genet. 2016.
PMID: 26969326
Free PMC article.
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
Olavarrieta L, Morales-Angulo C, del Castillo I, Moreno F, Moreno-Pelayo MA.
Olavarrieta L, et al.
Clin Genet. 2008 Mar;73(3):262-7. doi: 10.1111/j.1399-0004.2007.00947.x. Epub 2007 Dec 29.
Clin Genet. 2008.
PMID: 18177466
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Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, Bonneau D, Salomon R, Antignac C, Heidet L.
Krug P, et al.
Hum Mutat. 2011 Feb;32(2):183-90. doi: 10.1002/humu.21402.
Hum Mutat. 2011.
PMID: 21280147
Free article.
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