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Skewed Inactivation of X Chromosome: A Cause of Hemophilia Manifestation in Carrier Females

28 Oct 2020

Abstract excerpt

Hemophilia is an X-linked recessive hereditary disorder that classically affects males due to the presence of only one X chromosome in males. Females are usually carriers due to the presence of counterpart X chromosome, but many times manifestations of hemophilia are seen in heterozygous carrier females. This is a result of skewed lionization, in which more normal X chromosomes are converted to bar body, and more...

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PMID: 33269146
DOI: 10.7759/cureus.11216

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