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PIEZO1 mutation: a rare aetiology for fetal ascites

We present a case of isolated fetal ascites diagnosed at 20 weeks’ gestation. No aetiology was identified on extensive prenatal workup, including prenatal microarray. The patient terminated the pregnancy at 23 weeks’ gestation. Exome sequencing was performed on the products of conception, which ende...

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Podrobná bibliografie
Vydáno v:BMJ Case Rep
Hlavní autoři: Stolyar, Helen, Berry, Teresa, Singh, Amit Pal, Madan, Ichhcha
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2021
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8043013/
https://ncbi.nlm.nih.gov/pubmed/33837027
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-240682
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