Article
A novel mutation of HOXA11 in a patient with septate uterus.
Orphanet journal of rare diseases - 11 Dec 2017
Zhu Ying, Cheng Zhi, Wang Jing, Liu Beihong, Cheng Longfei, Chen Beili, Cao Yunxia, Wang Binbin
Abstract excerpt
BACKGROUND: The etiology of Müllerian duct anomalies (MDAs) is poorly understood at present. The HOXA11 gene is crucial for the development of the Müllerian duct. The objective of this study is to report a unique case of MDAs with a novel mutation in HOXA11. RESULTS: We identified a potential disease-causing mutation (p. E255K) in a patient with a septate uterus. The mutation was not detected in 169 control...
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