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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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Detalles Bibliográficos
Autores principales: Del Gobbo, Giulia F., Yuan, Victor, Robinson, Wendy P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8251599/
https://www.ncbi.nlm.nih.gov/pubmed/33750025
http://dx.doi.org/10.1002/ajmg.a.62183