典型科妮莉亚·德朗热综合征
Classical cornelia de lange syndrome.
作者信息
Badoe Ev
机构信息
Department of Child Health, University of Ghana Medical School, College of Health Sciences, P.O. Box 4236, Accra, Ghana.
出版信息
Ghana Med J. 2006;40(4):148-50.
Abstract
SummaryThese two case reports illustrate the importance of doing a thorough dysmorphology examination for all so called "Multiple congenital anomalies" children and attempting to fit them into a recognized syndrome. Well over 2000 dysmorphic syndromes are now recognized and diagnosis of these children can be extremely difficult.
摘要
总结
这两份病例报告说明了对所有所谓“多发性先天性畸形”儿童进行全面的畸形学检查并试图将他们归入已确认综合征的重要性。目前已确认的畸形综合征超过2000种，对这些儿童进行诊断可能极其困难。
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NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.对120例科妮莉亚·德朗热综合征患者进行NIPBL突变分析及基因型-表型相关性评估。
Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 Aug 18.
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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.科妮莉亚·德朗热综合征由NIPBL基因突变引起，NIPBL是果蝇Nipped - B的人类同源物。
Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16.
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Autosomal dominant inheritance of Brachmann-de Lange syndrome.
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