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Article

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.

American journal of medical genetics. Part A - 1 May 2022

Marwaha Ashish, Costain Gregory, Cytrynbaum Cheryl, Mendoza-Londono Roberto, Chad Lauren, Awamleh Zain, Chater-Diehl Eric, Choufani Sanaa, Weksberg Rosanna

Abstract excerpt

Kabuki syndrome (KS) is a neurodevelopmental disorder characterized by hypotonia, intellectual disability, skeletal anomalies, and postnatal growth restriction. The characteristic facial appearance is not pathognomonic for KS as several other conditions demonstrate overlapping features. For 20-30% of children with a clinical diagnosis of KS, no causal variant is identified by conventional genetic testing of the...

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PMID: 35043535
DOI: 10.1002/ajmg.a.62650
PMCID: PMC9303780

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The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.PMID 35043535Read ↗

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