Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

Background and objectives: Loeys–Dietz syndrome 3, also known as aneurysms-–osteoarthritis syndrome, is an autosomal dominant genetic connective tissue disease caused by pathogenic variants in SMAD3, a transcription factor involved in TGF-β signaling. This disorder is characterized by early-onset os...

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Detalles Bibliográficos
Autores principales: Richter, John E., Samreen, Ayesha, Vadlamudi, Charitha, Helmi, Haytham, Mohammad, Ahmed N., Wierenga, Klaas, Hines, Stephanie, Atwal, Paldeep S., Caulfield, Thomas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571799/
https://www.ncbi.nlm.nih.gov/pubmed/31096651
http://dx.doi.org/10.3390/medicina55050137

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