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Metadata
DOID DOID:0111059
Name Bernard-Soulier syndrome type A2
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.
https://www.ncbi.nlm.nih.gov/pubmed/11222377, https://www.ncbi.nlm.nih.gov/pubmed/1730088
Synonyms

BSSA2 [EXACT]

Xrefs

OMIM:153670

Relationships

is_a Bernard-Soulier syndrome

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