摘要
先证者(Ⅳ1)患儿,男,2岁,系第1胎第1产,足月顺产,生后无窒息,生后头面部散在出血点,伴脐部渗血,不伴有呕血、便血。查体:T36.7℃,P132次/分,血压正常,发育正常,营养中等,神志清,反应敏锐,皮肤巩膜无黄染,头面部散在出血点,浅表淋巴结未触及肿大,心肺听诊未见异常,肝脾未触及肿大,
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2010年第2期239-239,共1页
Chinese Journal of Medical Genetics
同被引文献22
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8Ruhoy SM, Yates A. Macrothrombocytopenia with dohle body- like granulocyte inclusions: a case report of May-Hegglin anomaly in a 33-year-old white woman with an update on the molecular findings of MYH9-related disease[J]. Lab Med, 2016, 47(3): 246- 250.
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10Garcfa Vallejo G, Cabellos M, Kabiri M, et al. Anaesthetic implications in a pregnant patient with an extreme thrombocytopenia due to a May-Hegglin anomaly: general o regional anaesthesia?[J]. Rev Esp Anestesiol Reanim, 2014, 61(8): 460-465.
引证文献3
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1刘红彦,李涛,王红丹,郭梁洁,吴东,肖海,郭谦楠,王涛.一个MYH9基因相关性血小板减少症家系的基因突变分析[J].中华医学遗传学杂志,2016,33(5):629-632. 被引量:7
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2任赛赛,刘海惠,陶艳玲,张颢.May-Hegglin异常二例报道并文献复习[J].中国医师进修杂志,2016,39(10):950-952.
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3时伟丽,侯巧芳,张卉,娄桂予,张玉薇,廖世秀.一个Wiskott-Aldrich综合征家系融S基因的突变分析[J].中华医学遗传学杂志,2018,35(2):207-209.
二级引证文献7
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1时伟丽,侯巧芳,张卉,娄桂予,张玉薇,廖世秀.一个Wiskott-Aldrich综合征家系融S基因的突变分析[J].中华医学遗传学杂志,2018,35(2):207-209.
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2李运玲,徐学聚,张园,张婉妍,孙步云.MYH9基因突变相关的遗传性血小板减少症1例并文献复习[J].中国小儿血液与肿瘤杂志,2018,23(6):297-300. 被引量:9
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3曾强武,韩媛媛,黄凌,姬红培,杜友燕,杨楠楠,徐琴,黄盛文.一个非肌性肌球蛋白重链9基因相关疾病家系的临床特征及基因突变分析[J].中华医学遗传学杂志,2019,36(4):352-356. 被引量:6
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4罗小娟,曹科,陈诗杨,付笑迎,毛晓宁,张艳,李长钢,陈运生.1例非肌性肌球蛋白重链9基因相关疾病家系并文献复习[J].临床检验杂志,2021,39(10):771-775. 被引量:2
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5高振亮,徐龙强,于水,牟文凤,李胜军,王笑峰.遗传性血小板病7例临床分析[J].精准医学杂志,2022,37(5):437-440. 被引量:1
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6毛舒婷,李白,王叨,刘姗姗,苏淑芳,魏林林,柴方园,刘莹,刘玉峰.伴血小板减少非肌性肌球蛋白重链9相关疾病2家系并文献复习[J].中华儿科杂志,2023,61(9):833-838.
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7何一旻,顾鸣敏.肌球蛋白重链基因在人类遗传性疾病中的研究进展[J].遗传,2017,39(10):877-887. 被引量:16
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1刘定胜.遗传性May—Hegglin异常的研究进展[J].国外医学(输血及血液学分册),2002,25(4):299-301. 被引量:1
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2于成龙,蔡文宇,李梅,于明华.May—Hegglin异常误诊为特发性血小板减少性紫癜一例[J].中华检验医学杂志,2008,31(6):702-703. 被引量:2
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3高红侠.心肌梗死的观察与护理[J].医学信息(中旬刊),2011,24(9):4929-4929.
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4郑继平,谢俊,张淑芳,韦双双,张兆山.May-Hegglin异常的分子机理[J].生物技术通讯,2007,18(3):524-526. 被引量:1
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5莫武宁,甘宝文,韦红英,莫海燕.May-Hegglin异常1例报告并文献复习[J].血栓与止血学,2002,8(2):92-92. 被引量:8
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6徐敏,凌柱三,张广森,吴晓英,张淑安.May-Hegglin异常二例[J].中华血液学杂志,2001,22(3):152-153. 被引量:23
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7陈海云,薛小霞.May-Hegglin异常骨髓涂片中包涵体与Dohle小体鉴别方法分析[J].中国现代医药杂志,2013,15(5):95-96. 被引量:1
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8任赛赛,刘海惠,陶艳玲,张颢.May-Hegglin异常二例报道并文献复习[J].中国医师进修杂志,2016,39(10):950-952.
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9郝冀洪,朱芸.遗传性May—Hegglin异常的实验室检查[J].中华检验医学杂志,2008,31(6):708-710. 被引量:2
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10邵秀茹,李家增,马军,展昭民.May-Hegglin异常家系1例临床及分子生物学研究[J].中国实用内科杂志,2007,27(S1):113-113. 被引量:2