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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Pub. Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568316/
https://www.ncbi.nlm.nih.gov/pubmed/26333996
http://dx.doi.org/10.1038/ncomms9085

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