Article

Perinatal presentations of nonimmune hydrops fetalis due to biallelic pathogenic variants in PIEZO1: underdiagnosed?

2022-07-06

Abstract excerpt

<title>Abstract</title> <p>Hydrops fetalis is a rare disorder associated with significant perinatal complications and a high perinatal mortality of at least 50%. Nonimmune hydrops fetalis (NIHF) is more frequent and results from a wide variety of etiologies. One cause of NIHF is lymphatic malformation 6 (LMPHM6 or generalized lymphatic dysplasia of Fotiou) due to biallelic loss-of-function (LoF) variants in <ital...

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Literature Corpus work: a9ba6a3b-93b2-5fea-a047-34de0da1b7d9
DOI: 10.21203/rs.3.rs-1790884/v1

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