Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

被引：29
|
作者：
Kuijpers, TW
Ridanpää, M
Peters, M
de Boer, I
Vossen, JMJJ
Pals, ST
Kaitila, I
Hennekam, RCM
机构：
[1] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, NL-1105 AZ Amsterdam, Netherlands
[2] Univ Helsinki, Dept Human Genet, Helsinki, Finland
[3] Leiden Univ, Med Ctr, Kinder Jeugdcentrum, Leiden, Netherlands
[4] Univ Amsterdam, Acad Med Ctr, Dept Pathol, NL-1105 AZ Amsterdam, Netherlands
[5] AMC, Dept Clin Genet, Amsterdam, Netherlands
来源：
JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 10期
关键词：
D O I：
10.1136/jmg.40.10.761
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：761 / 766
页数：6
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