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Novel mutations in the TP63 gene are potentially associated with Müllerian duct anomalies.

Human reproduction (Oxford, England) - 1 Dec 2016

Wang Xiaoyan, Zhang Xiruo, Liu Shan, Li Guangyu, Cui Linlin, Qin Yingying, Chen Zi-Jiang

Abstract excerpt

STUDY QUESTION: Are mutations and/or polymorphisms in the TP63 gene associated with human Müllerian duct anomalies (MDAs)? SUMMARY ANSWER: The novel mutation c.*374 G > A in the TP63 gene resulted in decreased expression of TP63 by generating new binding sites with miR-1260a/miR-532-3p and revealed the potential association between TP63 and human MDAs. WHAT IS KNOWN ALREADY: It has been shown that mice lacking...

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PMID: 27798044
DOI: 10.1093/humrep/dew259

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EMX2

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