Aortic dilation in Sotos syndrome: An underestimated feature?
- 1 July 2020
- journal article
- letter
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 182 (7), 1819-1823
- https://doi.org/10.1002/ajmg.a.61591
Abstract
No abstract availableThis publication has 14 references indexed in Scilit:
- Epigenetic Profiling Identifies Novel Genes for Ascending Aortic Aneurysm Formation with Bicuspid Aortic ValvesThe Heart Surgery Forum, 2015
- Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin StatesAnnual Review of Genomics and Human Genetics, 2014
- A Clinical Study of Sotos Syndrome Patients With Review of the LiteraturePediatric Neurology, 2009
- Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissectionsNature Genetics, 2007
- Compound heterozygous mutations in fibulin‐4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxaAmerican Journal of Medical Genetics Part A, 2007
- Analysis of 88 adult patients referred for genetics evaluationAmerican Journal Of Medical Genetics Part C-Seminars In Medical Genetics, 2007
- Dilation of the thoracic aorta: medical and surgical managementHeart, 2006
- Aortic aneurysmal disease and cutis laxa caused by defects in the elastin geneJournal of Medical Genetics, 2005
- Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 AberrationsAmerican Journal of Human Genetics, 2005
- A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2Nature Genetics, 2005