Mice deficient for Six1 show severe defects in organs such as skeletal muscle, kidney, thymus, sensory organs and ganglia derived from cranial placodes, and mutations in human SIX1 cause branchio-oto-renal syndrome, an autosomal dominant developmental disorder characterized by hearing loss and branchial defects.
This gene is essential for cartilage tissue development and mutations in it have been associated with Stickler syndrome type III and Marshall syndrome [46], which are characterized by hearing loss and bone and joint defects.
BOR syndrome was first described in 1975 by Melnick et al. and it is characterized by hearing loss, renal anomalies and branchial cysts or fistulae [ 17].
GRR98 is a very large G-protein coupled receptor expressed in the central nervous system and other tissue and implicated in Usher syndrome characterized by hearing loss and retinitis pigmentosa.
Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction.
Rep. Joe Pitts (R-Pa)., chairman of the health subcommittee, characterized the hearing as the first step toward a "timely" reauthorization of the health program.
In summary, we have characterized the hearing and vision defects in a zebrafish ush1c mutant and morpholino knockdown.
In this study we characterized the hearing dysfunction in OPA1-linked disorders and provided effective rehabilitative options to improve speech perception.
Maroteaux-Lamy syndrome, also called Mucopolysaccharidosis Vi, uncommon hereditary metabolic disease characterized by dwarfism, hearing loss, and progressive skeletal deformity.
Recent research in characterizing sensorineural hearing loss has delineated the importance of hair cell damage in understanding the bulk of sensorineural hearing impairments.
