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A Prospective Study on Clinical Profile of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Jammu for a Period of 1 Year
Autosomal Dominant Polycystic Kidney Disease Ronic Kidney Disease End-Stage Renal Disease
2013/1/31
The Present Study was conducted in department of Medicine, Govt. Medical College, jammu, Where a total of 41 patients—29 males and 12 females—fulfilled the inclusion criteria of ADPKD, were gathered d...
A 23 year-old man who was first seen in April 1996 gave a 8 year history of low back pain. This patient was treated with various antiinflamatory drugs for recent years. Father, mother and other sibshi...
一个常染色体显性遗传先天性眼外肌纤维化家系A Family History of Congenital Fibrosis of the Extraocular Muscle with Autosomal Dominant Inheritance
眼外肌纤维化 家系 常染色体显性遗传
2008/1/20
摘要为寻找疾病相关基因，通过随访调查、体检、病理检查等手段，发现了一眼外肌纤维化家系4代中有15人患有眼外肌纤维化综合征，主要表现先天性上眼睑下垂、下颌上举、头后仰、双眼固定下转位和被动牵拉试验阳性，眼外肌病理检查结果为肌纤维化和玻璃样变性，所有阳性体征者除眼球运动限制程度有区别外，其他眼部症状基本相同。遗传分析表明，该疾病属常染色体显性遗传。该家系可作为寻找眼外肌纤维化疾病相关基因的宝贵资源。A...