An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.
报道了一个遗传性小眼症家系的调查结果,该家系属于先天性睑裂狭小综合症,为常染色体显性遗传。
Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.
目的:研究华东地区汉族人常染色体显性遗传性多囊肾病(adpkd)基因型与临床表现型的关系。
Familial hypertrophic cardiomyopathy (FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait. It is the leading cause of sudden cardiac death (SCD) in youth.
家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病,它是年轻人心源性猝死的首要病因。
Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant inheritance disease. 25 cases from a family were reported. The pathology, clinical presentation and treatment were discussed.
遗传出血性毛细血管扩张症为常染色体显性遗传病,临床少见,本文就其病理变化、临床特点进行讨论,探讨其治疗方法。附一家系25例分析。
Objective: cyst lining epithelial cell proliferation and apoptosis are implicated in the pathogenesis of cyst formation in autosomal dominant polycystic kidney disease (ADPKD).
目的:研究多囊肾病囊肿衬里上皮的增生与凋亡及相关蛋白表达。
Objective: cyst lining epithelial cell proliferation and apoptosis are implicated in the pathogenesis of cyst formation in autosomal dominant polycystic kidney disease (ADPKD).
目的:研究多囊肾病囊肿衬里上皮的增生与凋亡及相关蛋白表达。
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