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Disease: Deafness- X-linked- DFN

  • A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22
  • A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
  • Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families
  • Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome
  • Deafness genes
  • Genetics of Nonsyndromic Congenital Hearing Loss
  • Non-syndromic hereditary hearing impairment
  • Phenotype and genotype in females with POU3F4 mutations
  • Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1)
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About CheckOrphan

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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