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Article

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.

Genes - 1 Dec 2022

Lintas Carla, Bottillo Irene, Sacco Roberto, Azzarà Alessia, Cassano Ilaria, Ciccone Maria Pia, Grammatico Paola, Gurrieri Fiorella

Abstract excerpt

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 disease-causing genes. Indeed, the term "chromatinopathies" is now widely used to describe epigenetic disorders caused...

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Identifiers

PMID: 36553533
DOI: 10.3390/genes13122266
PMCID: PMC9778367

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Source receipt: pubmed, retrieved 7 Sept 2026.

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