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Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report

The presence of multiple large (>1 Mb) copy number variants (CNVs) in non‐malignant tissue is rare in human genetics. We present a liveborn male with a birth weight below the first percentile associated with placental mosaicism involving eight 2.4–3.9 Mb de novo duplications. We found that the du...

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Detaylı Bibliyografya
Yayımlandı:Am J Med Genet A
Asıl Yazarlar: Del Gobbo, Giulia F., Yuan, Victor, Robinson, Wendy P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley & Sons, Inc. 2021
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8251599/
https://ncbi.nlm.nih.gov/pubmed/33750025
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.62183
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