Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability

BACKGROUND AND OBJECTIVES: To investigate the pathogenicity of 2 novel KDM5C variations, report the clinical and neuroimaging findings, and review the available literature. METHODS: Physical examinations, structural neuroimaging studies, and exome sequence analysis were performed. KDM5C constructs w...

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Detalles Bibliográficos
Autores principales: Wu, Po-Ming, Yu, Wen-Hao, Chiang, Chi-Wu, Wu, Chen-Yu, Chen, Jia-Shing, Tu, Yi-Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8641966/
https://www.ncbi.nlm.nih.gov/pubmed/34877407
http://dx.doi.org/10.1212/NXG.0000000000000646

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8641966/
https://www.ncbi.nlm.nih.gov/pubmed/34877407
http://dx.doi.org/10.1212/NXG.0000000000000646

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