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Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations

BACKGROUND: Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes contributing to phenotypic presentation. Copy-number variations in chromosome 6,...

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Detalles Bibliográficos
Autores principales:	Zhang, Liyu, Tie, Xiaoling, Che, Fengyu, Wang, Guoxia, Ge, Ying, Li, Benchang, Yang, Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10259020/ https://www.ncbi.nlm.nih.gov/pubmed/37303060 http://dx.doi.org/10.1186/s13039-023-00640-6

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