Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

被引：48

作者：

de Crecchio, G

Simonelli, F

Nunziata, G

Mazzeo, S

Greco, GM

Rinaldi, E

Ventruto, V

Ciccodicola, A

Miano, MG

Testa, F

Curci, A

D'Urso, M

Rinaldi, MM

Cavaliere, ML

Castelluccio, P

机构：

[1] CNR, Int Inst Genet & Biophys, I-80125 Naples, Italy

[2] Univ Naples, Eye Clin, Naples, Italy

[3] Osped Antonio Cardarelli, Serv Genet Med, Naples, Italy

来源：

CLINICAL GENETICS | 1998年 / 54卷 / 04期

关键词：

autosomal recessive inheritance; exudative vitreoretinopathy; retinal detachment; retinal vessels;

D O I：

10.1034/j.1399-0004.1998.5440409.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X-linked recessive mode of inheritance. Compared with the other modes of inheritance, the inherited clinical features here include earlier onset (at birth) and a more severe progressive course.

引用

页码：315 / 320

页数：6

共 23 条

[1] X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY - REPORT OF ONE FAMILY [J].