Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13

被引：57

作者：

Debeer, P

Bacchelli, C

Scambler, PJ

De Smet, L

Fryns, JP

Goodman, FR

机构：

[1] Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

[2] Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium

[3] Univ Hosp Pellenberg, Dept Orthopaed, Pellenberg, Belgium

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 11期

关键词：

D O I：

10.1136/jmg.39.11.852

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：852 / 856

页数：5

共 36 条

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