Polakit Teekakirikul Dianna M Milewicz David T Miller Ronald V Lacro Ellen S Regalado Ana Maria Rosales Daniel P Ryan Tomi L Toler Angela E Lin
10.1002/ajmg.a.35659
Am J Med Genet A
2013 Jan;161A(1):185-91.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/23239472/
Aorta / physiopathology Aortic Aneurysm, Thoracic / etiology Intestinal Polyposis / genetics Smad4 Protein / genetics Telangiectasia, Hereditary Hemorrhagic / genetics
Aorta / physiopathology Aortic Aneurysm, Thoracic / etiology Intestinal Polyposis / genetics Smad4 Protein / genetics Telangiectasia, Hereditary Hemorrhagic / genetics Case Reports Research Support, N.I.H., Extramural Adult Aortic Aneurysm, Thoracic / diagnosis Aortic Aneurysm, Thoracic / genetics Child Echocardiography Female Fibrillin-1 Fibrillins Humans Intestinal Polyposis / complications Intestinal Polyposis / diagnosis Male Marfan Syndrome / genetics Microfilament Proteins / genetics Mutation Protein Serine-Threonine Kinases / genetics Receptor, Transforming Growth Factor-beta Type I Receptor, Transforming Growth Factor-beta Type II Receptors, Transforming Growth Factor beta / genetics Signal Transduction Smad3 Protein / genetics Telangiectasia, Hereditary Hemorrhagic / complications Telangiectasia, Hereditary Hemorrhagic / diagnosis Transforming Growth Factor beta / genetics FBN1 protein, human Fibrillin-1 Fibrillins Microfilament Proteins Receptors, Transforming Growth Factor beta SMAD3 protein, human SMAD4 protein, human Smad3 Protein Smad4 Protein Transforming Growth Factor beta Protein Serine-Threonine Kinases Receptor, Transforming Growth Factor-beta Type I Receptor, Transforming Growth Factor-beta Type II TGFBR1 protein, human Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia
PMC3535513
23239472
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations
2013