Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.

Marie Boisson,Anne-Gael Cordier,Jelena Martinovic,Aline Receveur,Aurélie Mouka,Romain Diot, Catherine Egoroff, Geoffroy Esnault,Loïc Drévillon,Alexandra Benachi,Gérard Tachdjian,Lucie Tosca

Prenatal diagnosis（2022）

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摘要

We suggest that COL25A1, DSEL, EYA1, FLNA, MECOM, NRXN1, RARB, SPATA13, TJP2, XIRP2, and ZFPM2 genes may be related to CDH occurrence. Thus, this study provides a possibility for new methods of a positive diagnosis.

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number variations analysis,newborns,fetuses

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