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IL11RA基因相关颅缝早闭综合征两例并文献复习
作者:吴玉莹  王刚  仲春宇  刘子炜  周鼎  钟融乐 
单位:南京医科大学附属儿童医院 神经外科, 江苏 南京 210004
关键词:颅缝早闭 IL11RA基因 突变 病例报告 
分类号:R725.9
出版年·卷·期(页码):2024·52·第十期(1565-1569)
摘要:

颅缝早闭影响患儿的发育,但是其分子机制尚需要进一步挖掘,本研究报告2例南京医科大学附属儿童医院收治的IL11RA基因相关颅缝早闭综合征患儿,基因检测后提示1例患儿的两个突变位点是c.692(exon8) G>T和c.811-2(IVS8) A>G,错义突变,另1例患儿的突变位点是c.692(exon8) G>T和c.707(exon8) T>C,错义突变。术后2例患儿恢复良好。本报道并文献复习旨在加深临床对于IL11RA基因和颅缝早闭间潜在相关性的理解,为颅缝早闭的进一步研究和临床治疗提供新的思路。

参考文献:

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