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  1. No Access

    Article

    A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population

    Transcription factor AP-2 alpha (TFAP2A) is an important transcriptional factor involved in various aspects of embryo development including neural tube closure. Tfap2a deficiency led to the failure of cranial neu...

    Ke Su, Shuxia Chen, Jianhong Ye, Lele Kuang, Ting Zhang… in Child's Nervous System (2019)

  2. No Access

    Article

    Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort

    Neural tube defects (NTDs), which include spina bifida and anencephaly, are the second most common form of human structural congenital malformations. While it is well established that SHROOM3 plays a pivotal role...

    Zhongzhong Chen, Lele Kuang, Richard H. Finnell, Hongyan Wang in Human Genetics (2018)