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Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family
The aim of this work was to explore the genetic cause of the proband (Ⅲ2) presenting with polyhydramnios and gastroschisis. Copy number variation sequencing (CNV-seq), methylation-specific multiplex PCR (MS-PCR), and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) wer...
Autores principales: | Hu, Junjie, Zhang, Ying, Yang, Yanmei, Wang, Liya, Sun, Yixi, Dong, Minyue |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410364/ https://www.ncbi.nlm.nih.gov/pubmed/36035167 http://dx.doi.org/10.3389/fgene.2022.959666 |
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