An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomaldominant 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。
2
Objective: to analyze the relationship between the genotype and phenotype of autosomaldominant 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。
3
Familial hypertrophic cardiomyopathy (FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomaldominant trait. It is the leading cause of sudden cardiac death (SCD) in youth.