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Advances in Clinical Genetics of the Ehlers-Danlos Syndromes

The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical and genetic hetero- geneity of EDS frequently leads to underdiagnosis and misdiagnosis. Genetic testing is an...

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Uloženo v:
Hlavní autoři: XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group, WU Nan
Médium: Artigo
Jazyk:Chinês
Vydáno: Editorial Office of Journal of Rare Diseases 2024-07-01
Edice:罕见病研究
Témata:
ehlers-danlos syndromes
clinical genetics
genotype-phenotype correlation
whole genome sequencing
rna sequencing
deep phenotyping
On-line přístup:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.03.004
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