All Stories

  1. Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans
  2. Novel MYO6's mutation as cause of deafness in Brazil
  3. Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
  4. Is autosomal recessive deafness associated with oculocutaneous albinism a “coincidence syndrome”?
  5. Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
  6. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13