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...

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Detalles Bibliográficos
Autores principales: Marwaha, Ashish, Costain, Gregory, Cytrynbaum, Cheryl, Mendoza‐Londono, Roberto, Chad, Lauren, Awamleh, Zain, Chater‐Diehl, Eric, Choufani, Sanaa, Weksberg, Rosanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
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

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