Female and Male Carriers of Mutations Need to be Thoroughly Investigated.
作者信息
J Finsterer, C Stollberger
出版信息
Balkan J Med Genet. 2017 Dec 29;20(2):91-94. doi: 10.1515/bjmg-2017-0030. eCollection 2017 Dec.
Abstract
摘要
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Female and Male Carriers of Mutations Need to be Thoroughly Investigated.
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本文引用的文献
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A novel intronic splice site gene mutation detected prenatally in a family with Barth syndrome.在一个患有巴斯综合征的家族中产前检测到一种新的内含子剪接位点基因突变。
Balkan J Med Genet. 2017 Mar 8;19(2):95-100. doi: 10.1515/bjmg-2016-0043. eCollection 2016 Dec 1.
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Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis.伴有迟发性心肌病的巴斯综合征：一个被错过的诊断机会。
J Pediatr. 2017 Apr;183:196-198. doi: 10.1016/j.jpeds.2016.12.070. Epub 2017 Jan 18.
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Fetal Ventricular Hypertrabeculation/Noncompaction: Clinical Presentation, Genetics, Associated Cardiac and Extracardiac Abnormalities and Outcome.胎儿心室小梁增多/心肌致密化不全：临床表现、遗传学、相关心脏及心外异常与预后
Pediatr Cardiol. 2015 Oct;36(7):1319-26. doi: 10.1007/s00246-015-1200-y. Epub 2015 May 27.
4
Barth syndrome.巴德-希利综合征
Am J Med Genet C Semin Med Genet. 2013 Aug;163C(3):198-205. doi: 10.1002/ajmg.c.31372. Epub 2013 Jul 10.
5
Barth syndrome in a female patient.女性患者的巴德-希利综合征。
Mol Genet Metab. 2012 May;106(1):115-20. doi: 10.1016/j.ymgme.2012.01.015. Epub 2012 Jan 24.
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Cardiac and clinical phenotype in Barth syndrome.Barth综合征的心脏及临床表型
Pediatrics. 2006 Aug;118(2):e337-46. doi: 10.1542/peds.2005-2667. Epub 2006 Jul 17.
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