Disease: DFNB49 nonsyndromic deafness
- A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1
- DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population
- ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells
- Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss
- Tricellulin is a tight-junction protein necessary for hearing