Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

Podobne zapisy

• Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4)
  od: Yang, Tao , i wsp.
  Wydane: (2007)
• Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts
  od: Landa, Priya, i wsp.
  Wydane: (2013)
• Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant
  od: Ganaha, Akira, i wsp.
  Wydane: (2019)
• SLC26A4 Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct
  od: Ito, Taku, i wsp.
  Wydane: (2011)
• SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
  od: Pryor, S, i wsp.
  Wydane: (2005)