Associated Papers
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
29392890 (PubMed )
Supplement: HUMU-39-621-s001.pdf
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
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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