Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients | Orphanet Journal of Rare Diseases | Full Text

Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients | Orphanet Journal of Rare Diseases | Full Text

Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients

Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder for which 6 genes in the TGF-β pathway have been identified as causative. With the widespread use of genetic testing, the range of known clinical...

Authors:Hang Yang, Yanyun Ma, Mingyao Luo, Guoyan Zhu, Yinhui Zhang, Binbin Li, Chang Shu and Zhou Zhou

Citation:Orphanet Journal of Rare Diseases 2020 15:6

Content type:Research

Published on: 8 January 2020

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