p63:- - (EEC) - - (AEC)

Enzo Di Iorio1,2, Filippo Bonelli3, Raluca Bievel-Radulescu3

  • 1Clinical Genetics Unit, University Hospital of Padua, 35128 Padua, Italy.

PubMed
概括

由p63基因突变引起的Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) 和Ankyloblepharon-ectodermal defect-cleft lip/palate (AEC) 综合征,导致眼睛表面疾病的进展. 目前的治疗方法可以控制症状,但不能阻止疾病的进展.