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Meester-Loeys syndrome
Summary
- Synonym
-
- MRLS
- Definition
- A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28.
- Super Class
- X-linked monogenic disease syndrome
External Links
- Disease Ontology
- DOID:0111861
- Mondo Disease Ontology
- OMIM
