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The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder
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% o...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303780/ https://www.ncbi.nlm.nih.gov/pubmed/35043535 http://dx.doi.org/10.1002/ajmg.a.62650 |