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Paper Details

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Nat Commun
200
2015
GLD, Generalized lymphatic dysplasia, PIEZO1, autosomal dominant dehydrated hereditary stomatocytosis, autosomal recessive generalized lymphatic dysplasia, chylothoraces, facial and four limb lymphoedema, intestinal and/or pulmonary lymphangiectasia, lymphoedema, non-immune hydrops, non-immune hydrops fetalis, pericardial effusions, pleural effusions, primary lymphoedema, red blood cells
Author NameAffiliation
Michael A SimpsonKings College London School of Medicine, Guy's Hospital
Shin LinStanford University
Shin LinStanford University
Shin LinStanford University
Shin LinStanford University
Sahar MansourSt. George's University of London
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