The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.
作者： J Zlotogora , T Cohen , M Sagi
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摘要: The blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is rare autosomal dominant. A family presented analyzed together with 38 kindreds BPES reported in the literature. results demonstrate existence of two types syndrome: type I infertility affected females, II which transmitted by females males. entities are further differentiated incomplete penetrance only differences sex ratios children. Female a predominant symptom, distinction between importance for genetic counseling.
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