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16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

OBJECTIVES: 16p13.11 microdeletion/microduplication are rare genetic diseases with incomplete penetrance, most of which have been reported in adults and children, with ultrasound phenotyping in fetuses rarely described. Here, we have analyzed prenatal ultrasound phenotypic characteristics associated...

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Detalles Bibliográficos
Autores principales: Cai, Meiying, Que, Yanting, Chen, Xuemei, Chen, Yuqing, Liang, Bin, Huang, Hailong, Xu, Liangpu, Lin, Na
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9727942/
https://www.ncbi.nlm.nih.gov/pubmed/36476185
http://dx.doi.org/10.1186/s12884-022-05267-w