Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers‐Danlos syndrome in one large Chinese family

Journal of Cellular and Molecular Medicine

Yan Dai¹  Yunbing Chang²  Chong Chen²  Yushun Gao³  Mei Liang³ 

[1] Department of Radiology, First Affiliated Hospital, Sun Yat‐Sen University, Guangzhou, China;Department of Spine Surgery, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China;Department of Thoracic Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China;

关键词: aneurysm;    COL3A1;    Ehlers‐Danlos syndrome vascular type;    missense variant;   

DOI  :  10.1111/jcmm.17063

来源: Wiley

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