FANCONI-ANEMIA AND MOYAMOYA - EVIDENCE FOR AN ASSOCIATION

被引：31

作者：

PAVLAKIS, SG

VERLANDER, PC

GOULD, RJ

STRIMLING, BC

AUERBACH, AD

机构：

[1] CORNELL UNIV,NEW YORK HOSP,MED CTR,DEPT PEDIAT,NEW YORK,NY 10021

[2] ROCKEFELLER UNIV,INVEST DERMATOL LAB,NEW YORK,NY 10021

[3] OREGON MED GRP,EUGENE,OR

来源：

NEUROLOGY | 1995年 / 45卷 / 05期

关键词：

D O I：

10.1212/WNL.45.5.998

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report two patients with Fanconi anemia (FA) and moyamoya disease taken from a clinical database composed of 434 FA patients. Both are compound heterozygotes for the 322delG and R185X mutations in the FA complementation group C (FACC) gene. This combination of mutations is not found in any other of the 174 FA families screened. Either the 322delG or R185X mutation alone or in combination may predispose to primary, possibly congenital, vascular anomalies.

引用

页码：998 / 1000

页数：3

共 10 条

[1] CUTANEOUS AND EXTRACUTANEOUS NEUTROPHILIC INFILTRATES (SWEET SYNDROME) IN 3 PATIENTS WITH FANCONI ANEMIA [J].