Term Name: | Loeys-Dietz syndrome 4 |
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Synonyms: | Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations, LDS4 |
Definition: | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. |
Ontology: | Human Disease [DOID:0070233] ( DOID:0070233 ) |