Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation:: implications for genetic counselling

被引：14
作者：
Faber, J
Winterpacht, A
Zabel, B
Gnoinski, W
Schinzel, A
Steinmann, B
Superti-Furga, A
机构：
[1] Univ Zurich, Dept Pediat, Div Metab & Mol Dis, CH-8032 Zurich, Switzerland
[2] Univ Mainz, Childrens Hosp, D-55101 Mainz, Germany
[3] Univ Zurich, Clin Maxillary Orthopaed & Child Dent, CH-8028 Zurich, Switzerland
[4] Univ Zurich, Inst Med Genet, CH-8032 Zurich, Switzerland
来源：
JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 04期
关键词：
D O I：
10.1136/jmg.37.4.318
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：318 / 320
页数：3
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