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Metadata
ID DOID:0111861
Name Meester-Loeys syndrome
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.
https://pubmed.ncbi.nlm.nih.gov/27632686/
Xrefs

OMIM:300989

Synonyms

MRLS [EXACT]

Parent Relationships

is_a syndrome

is_a X-linked monogenic disease

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