Novel Compound Heterozygous Mutations in Two Families With Bernard–Soulier Syndrome

Background: Bernard–Soulier Syndrome (BSS) is a rare autosomal recessive bleeding disorder with large platelets and thrombocytopenia. It is caused by homozygous or compound heterozygous mutations in the GP1BA, GP1BB, or GP9 genes, which together encode the platelet surface receptor glycoprotein comp...

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Bibliographic Details
Published in:Front Pediatr
Main Authors: Minkov, Milen, Zeitlhofer, Petra, Zoubek, Andreas, Kager, Leo, Panzer, Simon, Haas, Oskar A.
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2021
Subjects:
Pediatrics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7864212/
https://ncbi.nlm.nih.gov/pubmed/33553065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.589812
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