Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS)

Yang, F; Yang, RJ; Li, Q; Zhang, J; Meng, YX; Liu, XJ; Yao, YF

Yang, F (通讯作者)，Jinan Univ, Clin Med Coll 2, Shenzhen Peoples Hosp, Dept Dermatol, 1017 Dongmenbci Rd, Shenzhen 518020, Guangdong, Peoples R China.;Yang, F (通讯作者)，Southern Univ Sci & Technol, Affiliated Hosp 1, 1017 Dongmenbei Rd, Shenzhen 518020, Guangdong, Peoples R China.;Yang, F (通讯作者)，Natl Clin Res Ctr Skin Dis, Candidate Branch, Shenzhen, Peoples R China.

MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (3):

Abstract

Ehlers-Danlos syndromes (EDSs) are a group of rare monogenic conditions with strong heterogeneity and can be caused by 20 genes associating with the e......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索