11/30/2023 0 Comments Usher syndrome type 2a carrier![]() ![]() Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. J., Ayuso, C., Cremers, C., Davenport, S., Moller, C., Talmadge, C. Non-canonical splice site variants are increasingly recognized as a relevant cause of the USH2A-associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and Usher syndrome type 2. L., Ma-Edmonds, M., Yan, D., Ahmad, I., Cheng, J. M., Aller, E., Mitter, D., Bolz, H.Ī novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.Įudy, J. Abstract Usher syndrome (USH) is defined by the association of sensorineural deafness and visual impairment due to retinitis pigmentosa. C., Becirovic, E., Lamprecht, J., Jurklies, B., Millan, J. ![]() Usher syndrome, type IIC, GPR98/PDZD7 digenicĪbadie, C., Blanchet, C., Baux, D., Larrieu, L., Besnard, T., Ravel, P., Biboulet, R., Hamel, C., Malcolm, S., Mondain, M., Claustres, M., Roux, A.-F.Īudiological findings in 100 USH2 patients.īesnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F.Įbermann, I., Scholl, H. Usher syndrome, type 2C, GPR98/PDZD7 digenic Usher syndrome type 2A (USH2A) is a genetic disease characterized by bilateral neuro-sensory hypoacusia and retinitis pigmentosa (RP).While several methods, including electroretinogram (ERG), describe retinal function in USH2A patients, structural alterations can be assessed by optical coherence tomography (OCT). ![]()
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