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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
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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