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Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2

In this report, we present a patient with brain alterations and dysmorphic features associated with chromosome duplication seen in 4p16.3 region and chromosomal deletion in a critical region responsible for Cri-du-chat syndrome (CdCS). Chromosomal microarray analysis (CMA) revealed a 41.1 Mb duplica...

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Detalles Bibliográficos
Autores principales: Corrêa, Thiago, Poswar, Fabiano, Feltes, Bruno César, Riegel, Mariluce
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311770/
https://www.ncbi.nlm.nih.gov/pubmed/32625234
http://dx.doi.org/10.3389/fgene.2020.00561