Expanding the Spectrum of KDM5C 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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Detalles Bibliográficos
Autores principales: Lintas, Carla, Bottillo, Irene, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Ciccone, Maria Pia, Grammatico, Paola, Gurrieri, Fiorella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778367/
https://www.ncbi.nlm.nih.gov/pubmed/36553533
http://dx.doi.org/10.3390/genes13122266

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778367/
https://www.ncbi.nlm.nih.gov/pubmed/36553533
http://dx.doi.org/10.3390/genes13122266

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