RECURRENT PRENATAL PIEZO1-RELATED LYMPHATIC DYSPLASIA: EXPANDING MOLECULAR AND ULTRASOUND FINDINGS.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.104106
Abstract: Generalized lymphatic dysplasia (GLD), characterized by lymphedema, lymphangiectasias, chylothorax, effusions, represents a recognized cause of fetal hydrops. We describe for the first time recurrent pregnancies showing different ultrasound presentations of lymphatic dysplasia. The first fetus… read more here.
Keywords: lymphatic dysplasia; piezo1 related; recurrent prenatal; dysplasia ... See more keywords
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
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DOI: 10.3389/fphys.2019.00258
Abstract: PIEZO1 is a cation channel activated by mechanical force. It plays an important physiological role in several biological processes such as cardiovascular, renal, endothelial and hematopoietic systems. Two different diseases are associated with alteration in… read more here.
Keywords: function mutations; lymphatic dysplasia; piezo1 hypomorphic; dysplasia ... See more keywords