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Confined placental mosaicism of Duchenne muscular dystrophy: a case report

BACKGROUND: Small copy number variations confined to the placenta are extremely rare findings in chorionic villus sampling, nonetheless of great clinical importance. To the best of our knowledge, this is the first reported case of confined placental mosaicism for an intragenic Duchenne muscular dyst...

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Publicado en:Mol Cytogenet
Main Authors: Winerdal, Max, Westenius, Eini, Granfors, Michaela, Pettersson, Maria, Iwarsson, Erik
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7745369/
https://ncbi.nlm.nih.gov/pubmed/33334361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-020-00520-3
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