| Metadata | |
|---|---|
| ID | DOID:0070233 |
| Name | Loeys-Dietz syndrome 4 |
| Definition | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. https://www.ncbi.nlm.nih.gov/pubmed/22772368 |
| Xrefs | |
| Synonyms |
Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations [EXACT] LDS4 [EXACT] |
| Parent Relationships |
is_a Loeys-Dietz syndrome |