Human genes for Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 2 [DOID:0070234]
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.
Synonyms: Loeys-Dietz syndrome 2, DOID:0070234, LoeysDietz syndrome 2, AAT3, familial throacic aortic aneurysm 3 ...