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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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Publicat a:Mol Cytogenet
Autors principals: Winerdal, Max, Westenius, Eini, Granfors, Michaela, Pettersson, Maria, Iwarsson, Erik
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
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Accés en línia: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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