An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly

被引：41

作者：

Kress, W

Petersen, B

Collmann, H

Grimm, T

机构：

[1] Univ Wurzburg, Dept Human Genet, D-8700 Wurzburg, Germany

[2] Univ Wurzburg, Childrens Hosp, D-8700 Wurzburg, Germany

[3] Univ Wurzburg, Dept Paediat Neurosurg, D-8700 Wurzburg, Germany

来源：

CYTOGENETICS AND CELL GENETICS | 2000年 / 91卷 / 1-4期

关键词：

D O I：

10.1159/000056834

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Non-syndromic trigonocephaly is a heterogeneous entity; in most cases the origin is unknown. Rare cases with autosomal dominant and recessive inheritance exist. Here the mutational screening often patients in the FGFR1, 2, and 3 genes and the TWIST gene causative of autosomal dominant craniosynostosis syndromes was reported. In one girl an unusual FGFR1 mutation was found. Copyright (C) 2001 S. Karger AG, Basel.

引用

页码：138 / 140

页数：3

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