Home > A. Molecular pathology > EYA4

EYA4

Sunday 3 April 2005

Pathology

- germline mutations in

  • dilated cardiomyopathy and sensorineural hearing loss
  • autosomal dominant nonsyndromic sensorineural deafness (MIM.601316)

References

- Schonberger J, Wang L, Shin JT, Kim SD, Depreux FF, Zhu H, Zon L, Pizard A, Kim JB, Macrae CA, Mungall AJ, Seidman JG, Seidman CE. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet. 2005 Apr;37(4):418-422. PMID: 15735644