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3展望
虽然迄今为止,关于BPES和FOXL2基因突变已经有许多研究，但是到目前为之,BPES的确切的发病机制，FOXL2基因的功能及作用机制及其与BPES临床分型的关系还不清楚,临床上对BPES患者的治疗也仅限于手术改善外观[33]，因此有关BPES和FOXL2基因的遗传特点和规律、起源和发生、病理机制、病变过程及其与临床的关系等方面均值得我们进一步探讨的课题。
【参考文献】
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2 Crisponi L, Deiana M, Loi A, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet2001;27(2):159166
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8张为民,逄惠,施惠平,等.睑裂狭小、倒转型内眦赘皮和上睑下垂综合征Ⅰ型相关基因定位.中华医学遗传学杂志2001;18(1):810
9 Maw M, Kar B, Biswas J, et al. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum Mol Genet1996;5(12):20492054
10 Warburg M, Bugge M, Br ndumNielsen K. Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J Med Genet1995;32(1):1924 上一页 [1] [2] |
