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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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Bibliografiske detaljer
Udgivet i:Mol Cytogenet
Main Authors: Winerdal, Max, Westenius, Eini, Granfors, Michaela, Pettersson, Maria, Iwarsson, Erik
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Online adgang: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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