Expanding the Spectrum of <i>KDM5C</i> Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations

Expanding the Spectrum of <i>KDM5C</i> Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations

As a consequence of the implementation of NGS technologies, the diagnostic yield of neurodevelopmental disorders has dramatically increased during the past two decades. Among neurodevelopmental genes, transcription-related genes and chromatin remodeling genes are the most represented category of dis...

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Bibliographic Details
Main Authors: Carla Lintas, Irene Bottillo, Roberto Sacco, Alessia Azzarà, Ilaria Cassano, Maria Pia Ciccone, Paola Grammatico, Fiorella Gurrieri
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Genes
Subjects:
X-linked intellectual disability
neuropsychiatric disorders
<i>KDM5C</i> gene
epigenetic signature
Claes–Jensen syndrome
Online Access:https://www.mdpi.com/2073-4425/13/12/2266

Internet

https://www.mdpi.com/2073-4425/13/12/2266

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