Associated Papers
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
Ritelli M et al.
Bmc Medical Genetics, 2014
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.
Leutermann R et al.
European Journal of Human Genetics : Ejhg, 2014
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Lindsay ME et al.
Nature Genetics, 2012
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C et al.
Nature Genetics, 2012
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