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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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Bibliographic Details
Published in:Mol Cytogenet
Main Authors: Winerdal, Max, Westenius, Eini, Granfors, Michaela, Pettersson, Maria, Iwarsson, Erik
Format: Artigo
Language:Inglês
Published: BioMed Central 2020
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Online Access: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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