Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1

Kabuki syndrome is a Mendelian disorder of the epigenetic machinery characterized by typical dysmorphic features, intellectual disability, and postnatal growth deficiency. Pathogenic variants in the genes encoding the chromatin modifiers KMT2D and KDM6A are responsible for Kabuki syndrome 1 (KS1) an...

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Detalles Bibliográficos
Autores principales: Montano, Carolina, Britton, Jacquelyn F., Harris, Jacqueline R., Kerkhof, Jennifer, Barnes, Benjamin T., Lee, Jennifer A., Sadikovic, Bekim, Sobreira, Nara, Fahrner, Jill A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321966/
https://www.ncbi.nlm.nih.gov/pubmed/35384273
http://dx.doi.org/10.1002/ajmg.a.62754

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321966/
https://www.ncbi.nlm.nih.gov/pubmed/35384273
http://dx.doi.org/10.1002/ajmg.a.62754

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