摘要
Netherton综合征是一种由SPINK5基因突变导致的严重且少见的常染色体隐形遗传病,估计全世界发病率约为1/200000[1]。目前该病全世界范围报道相对较少,尤其国内,现将收集一例婴儿Netherton综合征报道如下.
出处
《海南医学》
CAS
2020年第7期942-944,共3页
Hainan Medical Journal
参考文献3
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1唐新平,刘乐斌,杨小红,林志淼.不伴套叠性脆发的2例Netherton综合征致病基因突变检测[J].临床皮肤科杂志,2015,44(9):539-542. 被引量：5
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二级参考文献37
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4Hachem JP,Wagberg F,Schmuth M,et al.Serine proteaseactivity and residual LEKTI expression determine phenotype inNetherton syndrome.J Invest Dermatol,2006,126(7):1609-1621.
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共引文献12
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1冯洁,伦永志.人Kazal型丝氨酸蛋白酶抑制因子抗肿瘤作用研究进展[J].大连大学学报,2012,33(3):48-52.
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2韩博,杨晓庆,张晶,刘文君,刘龙.SPINK1在前列腺癌中的基础及临床转化研究进展[J].山东大学学报（医学版）,2012,50(8):40-45.
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3陈红,李强,刘玮,郭广进.全外显子测序诊断不典型Netherton综合征伴水疱[J].临床皮肤科杂志,2019,48(1):15-20. 被引量：3
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4张婧,王军.SPINK1/Spink3的研究进展[J].大连医科大学学报,2015,37(4):398-402. 被引量：4
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5陈瑞萍,杨庆琪,曲丽娜,郭广进.不伴毛发异常的Netherton综合征1例[J].中国皮肤性病学杂志,2018,32(11):1288-1290. 被引量：2
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6赵娜,汪国建,龙爽,粟永萍,王涛.Kazal型丝氨酸蛋白酶抑制因子SPINK7在食管疾病中的研究进展[J].消化肿瘤杂志（电子版）,2019,11(2):69-74.
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7杨秋萍,蔡尧,郝虎,李思涛,石聪聪,郑海文,肖昕.Netherton综合征2例并文献复习[J].中华实用儿科临床杂志,2019,34(13):1016-1019. 被引量：3
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8郑宝庆,颜韵灵,欧敏,王晓华,赖庆松.Netherton综合征1例并文献复习[J].中国皮肤性病学杂志,2020,34(11):1295-1298. 被引量：2
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9李珂瑶,文容,罗鸯鸯,谈鑫,蒋艳玲,周斌,韦祝.Netherton综合征一例[J].实用皮肤病学杂志,2021,14(6):379-381. 被引量：2
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10周龙妹,李萍,尚育焕,王艳玲,尹春英,李丹,何培元.血浆SPINK4表达在结直肠腺癌和进展期腺瘤中的诊断价值[J].重庆医学,2024,53(1):50-54.
同被引文献8
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1陈红,李强,刘玮,郭广进.全外显子测序诊断不典型Netherton综合征伴水疱[J].临床皮肤科杂志,2019,48(1):15-20. 被引量：3
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2杨秋萍,蔡尧,郝虎,李思涛,石聪聪,郑海文,肖昕.Netherton综合征2例并文献复习[J].中华实用儿科临床杂志,2019,34(13):1016-1019. 被引量：3
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3林克钊,钟美珍.新生儿Netherton综合征一例[J].中华新生儿科杂志（中英文）,2019,34(6):465-466. 被引量：4
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4李萌萌,王莲,李薇.Netherton综合征一例[J].中国麻风皮肤病杂志,2020,36(9):552-553. 被引量：1
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5郑宝庆,颜韵灵,欧敏,王晓华,赖庆松.Netherton综合征1例并文献复习[J].中国皮肤性病学杂志,2020,34(11):1295-1298. 被引量：2
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6霍小梅,龚小慧,马俐.Kazal 5型丝氨酸蛋白酶抑制剂基因突变致新生儿Netherton综合征一例并文献复习[J].中华围产医学杂志,2021,24(1):54-60. 被引量：2
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7陈映丹,黄惠,罗帅寒天,李亚萍,施小六,张桂英.不伴竹节发的不典型迟发Netherton综合征一例[J].中华皮肤科杂志,2021,54(8):716-718. 被引量：1
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8李珂瑶,文容,罗鸯鸯,谈鑫,蒋艳玲,周斌,韦祝.Netherton综合征一例[J].实用皮肤病学杂志,2021,14(6):379-381. 被引量：2
