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THREE NOVEL FOXL2 GENE MUTATIONS IN CHINESE PATIENTS WITH BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME 被引量:3
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作者 OR SIU-FONG JUNE TONG MING-FOR TONY +1 位作者 LO FAI-MAN IVAN lam tak-sum stephen 《Chinese Medical Journal》 SCIE CAS CSCD 2006年第1期49-52,共4页
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
关键词 blepharophimosis-ptosis-epicanthus inversussyndrome FOXL2 gene mutation multiplex ligation-dependent probe amplification
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