A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

BACKGROUND: Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material, gene disruption, or position effects. CASE PRESENTATION:...

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Detalles Bibliográficos
Autores principales: Restaldi, Fabrizia, Alesi, Viola, Aquilani, Angela, Genovese, Silvia, Russo, Serena, Coletti, Valentina, Pompili, Daniele, Falasca, Roberto, Dallapiccola, Bruno, Capolino, Rossella, Luciani, Matteo, Novelli, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6570965/
https://www.ncbi.nlm.nih.gov/pubmed/31223340
http://dx.doi.org/10.1186/s13039-019-0440-6

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