Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effus...

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Bibliografiska uppgifter
I publikationen:Nat Commun
Huvudupphovsmän: Fotiou, Elisavet, Martin-Almedina, Silvia, Simpson, Michael A., Lin, Shin, Gordon, Kristiana, Brice, Glen, Atton, Giles, Jeffery, Iona, Rees, David C., Mignot, Cyril, Vogt, Julie, Homfray, Tessa, Snyder, Michael P., Rockson, Stanley G., Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Pub. Group 2015
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4568316/
https://ncbi.nlm.nih.gov/pubmed/26333996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms9085
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