Case Report: A Novel Pathogenic Splicing Variant in COL9A3 Causing Erosive Arthropathy in Multiple Epiphyseal Dysplasia

被引:0
|
作者
Alnuaimi, Bashayer [1 ]
Valancy, Miranda [2 ]
Sbrocchi, Annie [3 ]
Campeau, Philippe [3 ]
Campillo, Sarah [4 ]
Lahiry, Piya [5 ]
机构
[1] McGill, Montreal, PQ, Canada
[2] Hosp St Justine, Montreal, PQ, Canada
[3] McGill Univ, Montreal, PQ, Canada
[4] McGill Univ, Hlth Ctr, Montreal, PQ, Canada
[5] Hosp Sick Children, Toronto, ON, Canada
关键词
MUTATION;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
37
引用
收藏
页码:60 / 61
页数:2
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