What are the specific genetic mutations associated with the development of hemophilic pseudotumors in hemophilia patients?
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Hemophilic pseudotumors in hemophilia patients are associated with specific genetic mutations. Studies have identified various mutations linked to the development of hemophilic pseudotumors, including missense mutations, nonsense mutations, frameshift mutations, intron 22 inversion, exon 5 substitution, exon 14 insertion, and large deletions . These mutations can impact the severity of hemophilia, with severe cases often presenting a higher risk of developing inhibitors . Additionally, the presence of inhibitors has been linked to specific mutations, such as intron 22 inversions, which have a higher incidence in patients with inhibitors . Understanding the genotype-phenotype correlation and the influence of specific mutations on inhibitor development is crucial for the effective management and treatment of hemophilia patients with pseudotumors.
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