Blepharophimosis-ptosis-epicanthus inversus Psyndrome (BPES, OMIM # 110100) is a rare autosomal dominant disorder affecting the eyelid and ovarian development. When co-occurred together, it is type Ⅰ and when only ...Blepharophimosis-ptosis-epicanthus inversus Psyndrome (BPES, OMIM # 110100) is a rare autosomal dominant disorder affecting the eyelid and ovarian development. When co-occurred together, it is type Ⅰ and when only the eyelid abnormalities are present, it is type Ⅱ. Both types had been mapped to the same locus 3q23 on the basis of cytogenetic rearrangements 1-3 and linkage analyses. 4-6 Subsequently,展开更多
文摘Blepharophimosis-ptosis-epicanthus inversus Psyndrome (BPES, OMIM # 110100) is a rare autosomal dominant disorder affecting the eyelid and ovarian development. When co-occurred together, it is type Ⅰ and when only the eyelid abnormalities are present, it is type Ⅱ. Both types had been mapped to the same locus 3q23 on the basis of cytogenetic rearrangements 1-3 and linkage analyses. 4-6 Subsequently,