A novel MSX1 mutation in hypodontia

被引：81

作者：

De Muynck, S

Schollen, E

Matthijs, G

Verdonck, A

Devriendt, K

Carels, C

机构：

[1] Katholieke Univ Leuven, Fac Med, Sch Dent, Dept Orthodont, B-3000 Louvain, Belgium

[2] Katholieke Univ Leuven Hosp, Ctr Human Genet, B-3000 Louvain, Belgium

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 128A卷 / 04期

关键词：

MSX1; PAX9; oligodontia; autosomal dominant;

D O I：

10.1002/ajmg.a.30181

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

MSX1 mutations have been reported in four unrelated families with autosomal dominant tooth agenesis. In one family, some individuals also had cleft lip and/or palate. We have identified a novel MSX1 mutation (559 C --> T, resulting in G1n187Stop) in three individuals of one family. (C) 2004 Wiley-Liss, Inc.

引用

页码：401 / 403

页数：3