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

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 fully elu...

Descripción completa

Detalles Bibliográficos
Autores principales: Yang, Hang, Ma, Yanyun, Luo, Mingyao, Zhu, Guoyan, Zhang, Yinhui, Li, Binbin, Shu, Chang, Zhou, Zhou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950884/
https://www.ncbi.nlm.nih.gov/pubmed/31915033
http://dx.doi.org/10.1186/s13023-019-1282-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950884/
https://www.ncbi.nlm.nih.gov/pubmed/31915033
http://dx.doi.org/10.1186/s13023-019-1282-3

Ejemplares similares