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...
Guardat en:
| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2020-01-01
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| Col·lecció: | Orphanet Journal of Rare Diseases |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s13023-019-1282-3 |
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