Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome

Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome

Loeys-Dietz syndrome (LDS) is a connective tissue disorder representing a wide spectrum of phenotypes, ranging from isolated thoracic aortic aneurysm or dissection to a more severe syndromic presentation with multisystemic involvement. Significant clinical variability has been noted for both related...

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Bibliografische gegevens
Hoofdauteurs: Emily R. Gordon, Stephanie A. Felker, Tanner F. Coleman, Nadiya Sosonkina, Jada Pugh, Meagan E. Cochran, Anna C. E. Hurst, Sara J. Cooper
Formaat: Artikel
Taal:English
Gepubliceerd in: Frontiers Media S.A. 2024-12-01
Reeks:Frontiers in Genetics
Onderwerpen:
splicing
Loeys-Dietz
TGFB2
noncoding variation
WGS
connective tissue disorder
Online toegang:https://www.frontiersin.org/articles/10.3389/fgene.2024.1435734/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2024.1435734/full

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