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    • Journal article
    Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
    Jaureguiberry, Graciana De la Dure-Molla, Muriel Parry, David Quentric, Mickael Himmerkus, Nina Koike, Toshiyasu Poulter, James Klootwijk, Enriko Robinette, Steven L Howie, Alexander J Patel, Vaksha Figueres, Marie-Lucile Stanescu, Horia C Issler, Naomi Nicholson, Jeremy K Bockenhauer, Detlef Laing, Christopher Walsh, Stephen B McCredie, David A Povey, Sue Asselin, Audrey Picard, Arnaud Coulomb, Aurore Medlar, Alan J Bailleul-Forestier, Isabelle Verloes, Alain Le Caignec, Cedric Roussey, Gwenaelle Guiol, Julien Isidor, Bertrand Logan, Clare Shore, Roger Johnson, Colin Inglehearn, Christopher Al-Bahlani, Suhaila Schmittbuhl, Matthieu Clauss, François Huckert, Mathilde Laugel, Virginie Ginglinger, Emmanuelle Pajarola, Sandra Spartà, Giuseppina Bartholdi, Deborah Rauch, Anita Addor, Marie-Claude Yamaguti, Paulo M Safatle, Heloisa P Acevedo, Ana Carolina Martelli-Júnior, Hercílio dos Santos Netos, Pedro E Coletta, Ricardo D Gruessel, Sandra Sandmann, Carolin Ruehmann, Denise Langman, Craig B Scheinman, Steven J Ozdemir-Ozenen, Didem Hart, Thomas C Hart, P Suzanne Neugebauer, Ute Schlatter, Eberhard Houillier, Pascal Gahl, William A Vikkula, Miikka Bloch-Zupan, Agnès Bleich, Markus Kitagawa, Hiroshi Unwin, Robert J Mighell, Alan Berdal, Ariane Kleta, Robert (2012) Nephron. Physiology — Vol. 122, no.1-2, p. 1-6 (2012)
    • Journal article
    Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.
    Donadieu, Jean Lamant, Marie Fieschi, Claire de Fontbrune, Flore Sicre Caye, Aurélie Ouachee, Marie Beaupain, Blandine Bustamante, Jacinta Poirel, Hélène[UCL] Isidor, Bertrand Van Den Neste, Eric Neel, Antoine Nimubona, Stanislas Toutain, Fabienne Barlogis, Vincent Schleinitz, Nicolas Leblanc, Thierry Rohrlich, Pierre Suarez, Felipe Ranta, Dana Chahla, Wadih Abou Bruno, Bénédicte Terriou, Louis Francois, Sylvie Lioure, Bruno Ahle, Guido Bachelerie, Françoise Preudhomme, Claude Delabesse, Eric Cave, Hélène Bellanné-Chantelot, Christine Pasquet, Marlène French GATA2 study group (2018) Haematologica — Vol. 103, no.8, p. 1278-1287 (2018)