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Molecular findings and clinical data in a cohort of 150 patients with anoph...
Archive ouverte: Article de revue
Chassaing, Nicolas | 2014
International audience. Anophthalmia and microphthalmia (AM) are the most severe malformations of the eye, corresponding respectively to reduced size or absent ocular globe. Wide genetic heterogeneity has been repor...
... RAX , 3 in OTX2 , 2 in FOXE3 , 1 in VSX2 , 1 in PAX6 , and 1 in GDF6 ). In addition eight gene deletions (five SOX2 , two OTX2 and one RAX ) were identified...
... RAX , SOX2 , and VSX2 ) were studied by direct sequencing. In four of these genes (OTX2 , RAX , SOX2 , and VSX2 ), quantita- tive multiplex polymerase...
... RAX Homozygous or compound heterozygous RAX muta- tions were identified in 4 of 150 (3%) patients, bringing the number of described RAX mutations to...
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