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Prevalence and Phenotypic Impact of Robertsonian Translocations

Robertsonian translocations (RTs) result from fusion of 2 acrocentric chromosomes (e.g., 13, 14, 15, 21, 22) and consequential losses of segments of the p arms containing 47S rDNA clusters and transcription factor binding sites. Depending on the position of the breakpoints, the size of these losses...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Poot, Martin, Hochstenbach, Ron
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7983559/
https://ncbi.nlm.nih.gov/pubmed/33776621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000512676
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