The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure

被引:24
作者
Giunta, Cecilia [1 ]
Chambaz, Celina [1 ]
Pedemonte, Marina [2 ,3 ]
Scapolan, Sara [2 ,3 ]
Steinmann, Beat [1 ]
机构
[1] Univ Zurich, Childrens Hosp, Div Metab & Mol Pediat, CH-8032 Zurich, Switzerland
[2] Univ Genoa, Muscular & Neurodegenerat Dis Unit, Genoa, Italy
[3] G Gaslini Inst Children, Genoa, Italy
关键词
D O I
10.1002/ajmg.a.32213
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
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页码:1341 / 1346
页数:6
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