Article

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterization of chromatinopathies.

2025-05-26

Abstract excerpt

<title>Abstract</title> Recent advances in sequencing technologies have enhanced patient diagnosis; however, causal pathogenic variants remain unidentified for a significant number of patients due to limited understanding of certain variants, regulatory sequences, or sequencing challenges, such as complex rearrangements. Investigating the epigenetic landscape has become essential to improve the diagnostic yiel...

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Literature Corpus work: a90e5b54-4291-576a-8f08-143a9d9f1e66
DOI: 10.21203/rs.3.rs-6706576/v1

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