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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.
Affiliation
  • Jaureguiberry G; Centre for Nephrology, University College London, London, UK.
Nephron Physiol ; 122(1-2): 1-6, 2012.
Article in En | MEDLINE | ID: mdl-23434854
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Dental Enamel Proteins / Amelogenesis Imperfecta / Mutation / Nephrocalcinosis Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Nephron Physiol Journal subject: NEFROLOGIA Year: 2012 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Dental Enamel Proteins / Amelogenesis Imperfecta / Mutation / Nephrocalcinosis Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Nephron Physiol Journal subject: NEFROLOGIA Year: 2012 Document type: Article Affiliation country: Country of publication: