Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2

Marfan syndrome (MFS) and Loeys–Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and systemic features as manifestations overlapping with LDS4. LDS4...

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Detalles Bibliográficos
Autores principales: Nistri, Stefano, De Cario, Rosina, Sticchi, Elena, Spaziani, Gaia, Della Monica, Matteo, Giglio, Sabrina, Favilli, Silvia, Giusti, Betti, Stefano, Pierluigi, Pepe, Guglielmina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536070/
https://www.ncbi.nlm.nih.gov/pubmed/34680857
http://dx.doi.org/10.3390/genes12101462

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536070/
https://www.ncbi.nlm.nih.gov/pubmed/34680857
http://dx.doi.org/10.3390/genes12101462

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