Not logged inGenetic and phenotypic spectrum associated with IFIH1 gain-of-function
Rice, Gillian, I; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; de Villemeur, Thierry Billette; Bley, Annette E.; Blumkin, Lubov; Boespflug-Tanguy, Odile; Briggs, Tracy A.; Brimble, Elise; Dale, Russell C.; Darin, Niklas; Debray, Francois-Guillaume; De Giorgis, Valentina; Denecke, Jonas; Doummar, Diane; af Hagelsrum, Gunilla Drake; Eleftheriou, Despina; Estienne, Margherita; Fazzi, Elisa; Feillet, Francois; Galli, Jessica; Hartog, Nicholas; Harvengt, Julie; Heron, Benedicte; Heron, Delphine; Kelly, Diedre A.; Lev, Dorit; Levrat, Virginie; Livingston, John H.; Marti, Itxaso; Mignot, Cyril; Mochel, Fanny; Nougues, Marie-Christine; Oppermann, Ilena; Perez-Duenas, Belen; Popp, Bernt; Rodero, Mathieu P.; Rodriguez, Diana; Saletti, Veronica; Sharpe, Cia; Tonduti, Davide; Vadlamani, Gayatri; Van Haren, Keith; Vila, Miguel Tomas; Vogt, Julie; Wassmer, Evangeline; Wiedemann, Arnaud; Wilson, Callum J.; Zerem, Ayelet; Zweier, Christiane; Zuberi, Sameer M.; Orcesi, Simona; Vanderver, Adeline L.; Hur, Sun; Crow, Yanick J. .png)
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SaveNovel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis (vol 6, 8035, 2015)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 Share Save RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionUlrick, Nicole; Goldstein, Amy; Simons, Cas; Taft, Ryan J.; Heiman, Guy; Pizzino, Amy; Bloom, Miriam; Vogt, Julie; Pysden, Karen; Diodato, Dania; Martinelli, Diego; Monavari, Ahmad; Buhas, Daniela; van Karnebeek, Clara D. M.; Dorboz, Imen; Boespflug-Tanguy, Odile; Rodriguez, Diana; Tetreault, Martine; Majewski, Jacek; Bernard, Genevieve; Ng, Yi Shiau; McFarland, Robert; Vanderver, Adeline Share Save Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisFotiou, 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 Share Save 
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