USHER SYNDROME, TYPE IB (disorder)
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PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. METHODS… Expand PURPOSE
Usher syndrome (USH) is a genetically heterogeneous disease with autosomal recessive deafness and blindness. Gene therapy… Expand Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive deaf-blinding disorders. Pathophysiology leading… Expand Recessive mutations of MYO7A, encoding unconventional myosin VIIA, can cause either a deaf‐blindness syndrome (type 1 Usher… Expand To the Editor:
Usher syndrome type I (USH1) is an autosomal recessive condition characterized by profound congenital hearing… Expand Audiometric features, evaluated by serial pure tone audiometry and speech recognition tests (n = 31), were analysed in 59 Finnish… Expand Usher syndrome (USH) is defined by the association of sensorineural deafness and visual impairment due to retinitis pigmentosa… Expand OBJECTIVE
To evaluate hearing impairment in 2 common genetic subtypes of Usher syndrome, USH1B and USH2A.
Cross… Expand Hereditary non-syndromic profound deafness affects about 1 in 2000 children prior to language acquisition. In 80% of the cases… Expand The gene encoding human myosin VIIA is responsible for Usher syndrome type III (USH1B), a disease which associates profound… Expand