Norrie disease. Diagnosis of a simplex case by DNA analysis.
作者信息
Chynn E W, Walton D S, Hahn L B, Dryja T P
机构信息
Department of Ophthalmology, Massachusetts Eye and Ear Infirmiary, Boston, USA.
出版信息
Arch Ophthalmol. 1996 Sep;114(9):1136-8. doi: 10.1001/archopht.1996.01100140338018.
Abstract
Norrie disease is a rare, X-linked recessive disorder characterized by congenital blindness due to malformed retinas. We describe a simplex patient who had leukokoria and whose clinical diagnosis was confirmed only after molecular genetics analysis. DNA analysis was also used to determine the carrier status of relatives of the proband.
摘要
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