Human genes for Loeys-Dietz syndrome 1
Loeys-Dietz syndrome 1 [DOID:0070235]
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
Synonyms: Loeys-Dietz syndrome 1, DOID:0070235, LoeysDietz syndrome 1, AAT5, familial throacic aortic aneurysm 5 ...