X-linked diseases: susceptible females

Research output: Contribution to journalReview articlepeer-review


The role of X-inactivation is often ignored as a prime cause of sex differences in disease. Yet, the way males and females express their X-linked genes has a major role in the dissimilar phenotypes that underlie many rare and common disorders, such as intellectual deficiency, epilepsy, congenital abnormalities, and diseases of the heart, blood, skin, muscle, and bones. Summarized here are many examples of the different presentations in males and females. Other data include reasons why women are often protected from the deleterious variants carried on their X chromosome, and the factors that render women susceptible in some instances.

Original languageEnglish (US)
Pages (from-to)1156-1174
Number of pages19
JournalGenetics in Medicine
Issue number7
StatePublished - Jul 1 2020

ASJC Scopus subject areas

  • Genetics(clinical)


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