Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

In humans, the most common genomic disorder is the hemizygous deletion of the chromosome 22q11.2 region, that results in the “22q11.2 deletion syndrome” (22q11.2DS). A peculiarity of 22q11.2DS is its great phenotypic variability that makes this pathology a classic example of a syndrome with variable...

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Detalles Bibliográficos
Autores principales: Bertini, Veronica, Azzarà, Alessia, Legitimo, Annalisa, Milone, Roberta, Battini, Roberta, Consolini, Rita, Valetto, Angelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5410573/
https://www.ncbi.nlm.nih.gov/pubmed/28507561
http://dx.doi.org/10.3389/fgene.2017.00047

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