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我国学者与海外合作者在先天性脊柱畸形发病机制研究方面取得进展
该研究在先天性脊柱畸形队列中报道了SOX9致病性突变,并研究了SOX9的TAM突变导致轻度中轴骨发育不良的机制,为脊柱畸形的早期诊断及遗传咨询提供了理论依据。
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