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...
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: | |
Online Access: | https://www.mdpi.com/2073-4425/13/12/2266 |
Similar Items
-
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 <i>locus</i> Associated with Variable Expressivity of Neuropsychiatric Disorders
by: Carla Lintas, et al.
Published: (2022-09-01) -
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> Variants
by: Sébastien Lebon, et al.
Published: (2021-09-01) -
Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results
by: Carla Lintas, et al.
Published: (2021-10-01) -
Targeting of Histone Demethylases KDM5A and KDM6B Inhibits the Proliferation of Temozolomide-Resistant Glioblastoma Cells
by: Massimo Romani, et al.
Published: (2019-06-01) -
Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder
by: Sager G, et al.
Published: (2024-03-01)