Usher syndrome, type 1B
National Institutes of Health
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The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either…
Variants in the head and tail domains of the MYO7A gene, encoding myosin VIIA, cause Usher syndrome type 1B (USH1B) and…
Usher syndrome type 1B (Usher 1B) is an inherited deaf-blindness disorder, caused by mutations in the MYO7A gene. Newborns with…
Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo…
Hermansky‐Pudlak Syndrome (HPS) is a genetically heterogeneous disorder characterized by oculocutaneous albinism and prolonged…
PURPOSE
In humans, mutations in the gene encoding myosin VIIa can cause Usher syndrome type 1b (USH1B), a disease characterized…
Usher syndrome type 1B (USH1B) is an autosomal recessive disorder characterized by sensorineural hearing loss, constant…