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Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature

Abstract Kabuki syndrome type 1 (KS1) is a monogenic disorder arising from pathogenic variants within KMT2D and characterized by syndromic neurodevelopmental delay. We report the retrospective identification of a causative AluY insertion within KMT2D in a genetically unsolved individual with typical...

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Principais autores: Quentin Sabbagh, Nathalie Ruiz-Pallares, Cassandra Rastin, Jacques Puechberty, Thomas Guignard, Claire Jeandel, Fanny Merklen, Pascal Pujol, Jennifer Kerkhof, Bekim Sadikovic, Mouna Barat-Houari, David Geneviève
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-04-01
Serier:Clinical Epigenetics
Fag:
Kabuki syndrome
KMT2D
Epigenetic signature
Alu element
Mobile element insertion
Online adgang:https://doi.org/10.1186/s13148-025-01879-z
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