类脂蛋白沉积症（乌尔巴赫-维特综合征）。
Lipoid proteinosis (Urbach-Wiethe syndrome).
作者信息
Feiler-Ofry V, Lewy A, Regenbogen L, Hanau D, Katznelson M B, Godel V
出版信息
Br J Ophthalmol. 1979 Oct;63(10):694-8. doi: 10.1136/bjo.63.10.694.
Abstract
A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.
摘要
一个犹太裔伊朗家庭患有类脂蛋白沉积症。8名受影响的兄弟姐妹来自近亲通婚，表现出广泛的表型表达。文中讨论了2名杂合子携带者的轻微表现以及常染色体隐性遗传的可能性。
Zotero 插件