Article

Skewed X-chromosome inactivation in women with idiopathic intellectual disability as indicative of pathogenic variants

2022-08-03

Abstract excerpt

<title>Abstract</title> <p>Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximately 1% of the population worldwide. Extreme deviations of X-chromosome inactivation (XCI) can be related to ID phenotypes caused by pathogenic variants in the X-chromosome. We analyzed the blood pattern of XCI in 194 women with idiopathic ID, using the androgen r...

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Literature Corpus work: d1ce723b-f844-508b-8e0c-012d9502f281
DOI: 10.21203/rs.3.rs-1859222/v1

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