E

 

Epstein sendromu

Kalıtsal AD

İşitme sorunları

Trombositopeni

Deri ve mukoza kanamaları (yaşla azalan)

Dişeti kanamaları

Kronik böbrek yetmezliği

Renal hipertansiyon

 

  • Seri M, Pecci A, Di Bari F, et al. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine, 82: 203-215, 2003

  • Utsch B, DiFeo A, Kujat A, et al. Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? (Letter). American Journal of Medical Genetics A, 140A: 2251-2253, 2006