Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

Loeys-Dietz syndrome (LDS) is a connective tissue disorder first described in 2005 featuring aortic/arterial aneurysms, dissections, and tortuosity associated with craniofacial, osteoarticular, musculoskeletal, and cutaneous manifestations. Heterozygous mutations in 6 genes (TGFBR1/2, TGFB2/3, SMAD2...

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Detalles Bibliográficos
Autores principales: Camerota, Letizia, Ritelli, Marco, Wischmeijer, Anita, Majore, Silvia, Cinquina, Valeria, Fortugno, Paola, Monetta, Rosanna, Gigante, Laura, Sangiuolo, Federica Carla, Novelli, Giuseppe, Colombi, Marina, Brancati, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826414/
https://www.ncbi.nlm.nih.gov/pubmed/31569402
http://dx.doi.org/10.3390/genes10100764

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826414/
https://www.ncbi.nlm.nih.gov/pubmed/31569402
http://dx.doi.org/10.3390/genes10100764

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