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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Nat Commun
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Pub. Group 2015
Gaiak:
Article
Sarrera elektronikoa: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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