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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...

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Detalles Bibliográficos
Autores principales: Hu, Junjie, Zhang, Ying, Yang, Yanmei, Wang, Liya, Sun, Yixi, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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