Article

Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes

2022-11-04

Abstract excerpt

<title>Abstract</title> <p>Despite major technical and genetic advances, more than half of the neurodevelopmental disorders (NDDs) cases remain undiagnosed. We explored the frequency of non-random XCI in the mothers of male patients and in affected females from a clinically heterogeneous cohort of unsolved NDD cases, negative at FRAXA, chromosomal microarray analysis and Trio Exome Sequencing. We hypothesize that...

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Literature Corpus work: a65dd331-798b-5dd8-ac34-87a87e1bffbf
DOI: 10.21203/rs.3.rs-2179710/v1

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