LIPOID PROTEINOSIS (URBACH-WIETHE SYNDROME)

被引：15

作者：

FEILEROFRY, V

LEWY, A

REGENBOGEN, L

HANAU, D

BATMIRIAMKATZNELSON, M

GODEL, V

机构：

[1] TEL AVIV UNIV,CHAIM SHEBA MED CTR,GOLDSCHLEGER EYE INST,TEL HASHOMER,ISRAEL

[2] TEL AVIV UNIV,CHAIM SHEBA MED CTR,DEPT DERMATOL,TEL HASHOMER,ISRAEL

[3] TEL AVIV UNIV,CHAIM SHEBA MED CTR,DEPT HUMAN GENET,TEL HASHOMER,ISRAEL

来源：

BRITISH JOURNAL OF OPHTHALMOLOGY | 1979年 / 63卷 / 10期

关键词：

D O I：

10.1136/bjo.63.10.694

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页码：694 / 698

页数：5

共 13 条

[1]

Blodi F C, 1960, Trans Am Ophthalmol Soc, V58, P155

[2] LIPOID PROTEINOSIS [J].