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Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study

BACKGROUND: 1q21.1q21.2 microdeletions/microduplications are rare and incompletely penetrant genetic mutations, and only a few reports regarding their prenatal diagnosis are currently available. Here, we analyzed the ultrasonographic phenotypic characteristics of fetuses with these mutations to impr...

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Detalles Bibliográficos
Autores principales: Guo, Nan, Xue, Huili, Liang, Bin, Huang, Hailong, Cai, Meiying, Xu, Liangpu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463642/
https://www.ncbi.nlm.nih.gov/pubmed/37612587
http://dx.doi.org/10.1186/s12920-023-01618-4