Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS. The prob...

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Detalles Bibliográficos
Autores principales: Zimmermann, Michael T., Urrutia, Raul A., Blackburn, Patrick R., Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Macmurdo, Colleen, Atwal, Paldeep S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253504/
https://www.ncbi.nlm.nih.gov/pubmed/28163941
http://dx.doi.org/10.1155/2017/7263780

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253504/
https://www.ncbi.nlm.nih.gov/pubmed/28163941
http://dx.doi.org/10.1155/2017/7263780

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