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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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Библиографические подробности
Опубликовано в: :BMJ Case Rep
Главные авторы: Stolyar, Helen, Berry, Teresa, Singh, Amit Pal, Madan, Ichhcha
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Publishing Group 2021
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Online-ссылка: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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