【摘 要】
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Background Bladder exstrophy epispadias complex(BEEC)is a very rare and complex birth defect whichinvolves the urinary,reproductive and intestinal tracts,as well as the musculoskeletalsystem.Previousl
【机 构】
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Monash Institute of Medical Research,Monash University,Melbourne,Australia;北京和睦家医院,小儿外科
【出 处】
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中华医学会小儿外科学分会全国小儿外科学术研讨会
论文部分内容阅读
Background Bladder exstrophy epispadias complex(BEEC)is a very rare and complex birth defect whichinvolves the urinary,reproductive and intestinal tracts,as well as the musculoskeletalsystem.Previously,we showed that the TP63 is a candidate gene for BEEC and,TP63 isoform ΔNP63 expressionis reduced in BEEC patients.We have also identified ΔNP63 promoter in/del polymorphisms which isassociated with increased risk of BEEC.Very recently we speculated that the TP63＞PERP＞DSP pathway mayinvolve in BEEC.Therefore,our current study mainly focuses on the exons of PERP and DSP genes to identify possible sequence variant that might contribute to BEEC pathogenesis.
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