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

Abstract Background 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 and genetic profiles has broadened, but these features have not been f...

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Hlavní autoři:	Hang Yang, Yanyun Ma, Mingyao Luo, Guoyan Zhu, Yinhui Zhang, Binbin Li, Chang Shu, Zhou Zhou
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2020-01-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Loeys-Dietz syndrome Genetic testing Phenotypic spectrum
On-line přístup:	https://doi.org/10.1186/s13023-019-1282-3
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