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- W4220977715 abstract "The PIEZO1 gene, also known as Piezo-Type Mechanosensitive Ion Channel Component 1, causes two genetically allelic conditions: autosomal dominant dehydrated hereditary stomatocytosis (DHS) and autosomal recessive generalized lymphatic dysplasia of Fotiou (GLDF). Both may result in non-immune hydrops fetalis (NIHF) due to PIEZO1’s role in development of the lymphatic vasculature system. However, they differ by the mechanism of disease, with gain-of-function variants in PIEZO1 leading to a DHS phenotype, and loss-of-function variants leading to GLDF." @default.
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- W4220977715 date "2022-03-01" @default.
- W4220977715 modified "2023-10-16" @default.
- W4220977715 title "eP449: Expansion of the prenatal phenotype of PIEZO1 variants" @default.
- W4220977715 doi "https://doi.org/10.1016/j.gim.2022.01.482" @default.
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