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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
    Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports
    Galliani, Eva Burglen, Lydie Kadlub, Natacha Just, Walter Sznajer, Yves[UCL] de Villemeur, Thierry Billette Soupre, Véronique Picard, Arnaud Vazquez, Marie-Paule (2012) Cleft Palate - Craniofacial Journal — Vol. 49, no.3, p. 357-364 (2012)