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Bernard-Soulier syndrome type A2
Summary
- Synonym
-
- BSSA2
- Definition
- A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.
- Super Class
- Bernard-Soulier syndrome
External Links
- Disease Ontology
- DOID:0111059
- Mondo Disease Ontology
- OMIM
