Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations

Nephron - Physiology

Volumn 122, Issue 1-2, 2013, Pages 1-6

  Jaureguiberry, Graciana ^a   De La Dure Molla, Muriel ^b   Parry, David ^c   Quentric, Mickael ^d   Himmerkus, Nina ^e   Koike, Toshiyasu ^f   Poulter, James ^c   Klootwijk, Enriko ^a   Robinette, Steven L ^g   Howie, Alexander J ^a   Patel, Vaksha ^a   Figueres, Marie Lucile ^h   Stanescu, Horia C ^a   Issler, Naomi ^a   Nicholson, Jeremy K ^g   Bockenhauer, Detlef ^a   Laing, Christopher ^a   Walsh, Stephen B ^a   McCredie, David A ⁱ   Povey, Sue ^a   Asselin, Audrey ^j   Picard, Arnaud ^j   Coulomb, Aurore ^k   Medlar, Alan J ^a   Bailleul Forestier, Isabelle ^l   Verloes, Alain ^m   Le Caignec, Cedric ⁿ   Roussey, Gwenaelle ⁿ   Guiol, Julien ^o   Isidor, Bertrand ⁿ   Logan, Clare ^c   Shore, Roger ^c   Johnson, Colin ^c   Inglehearn, Christopher ^c   Al Bahlani, Suhaila ^p   Schmittbuhl, Matthieu ^q   Clauss, François ^q   Huckert, Mathilde ^q   Laugel, Virginie ^r   Ginglinger, Emmanuelle ^s   Pajarola, Sandra ^t   Spartà, Giuseppina ^u   Bartholdi, Deborah ^t   Rauch, Anita ^t   Addor, Marie Claude ^v   Yamaguti, Paulo M ^w   Safatle, Heloisa P ^x   Acevedo, Ana Carolina ^w   Martelli Júnior, Hercílio ^y   Dos Santos Netos, Pedro E ^y   Coletta, Ricardo D ^z   Gruessel, Sandra ^e   Sandmann, Carolin ^e   Ruehmann, Denise ^e   Langman, Craig B ^aa   Scheinman, Steven J ^ab   Ozdemir Ozenen, Didem ^ac   Hart, Thomas C ^ad   Hart, P Suzanne ^ae   Neugebauer, Ute ^af   Schlatter, Eberhard ^af   Houillier, Pascal ^h   Gahl, William A ^ae   Vikkula, Miikka ^d   Bloch Zupan, Agnès ^q   Bleich, Markus ^e   Kitagawa, Hiroshi ^f   Unwin, Robert J ^a   Mighell, Alan ^c   Berdal, Ariane ^j   Kleta, Robert ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b HÔPITAL ROTHSCHILD   (France)

^c UNIVERSITY OF LEEDS   (United Kingdom)

^d DE DUVE INSTITUTE   (Belgium)

^e UNIVERSITY OF KIEL   (Germany)

^f KOBE PHARMACEUTICAL UNIVERSITY   (Japan)

^g IMPERIAL COLLEGE LONDON   (United Kingdom)

^h CENTRE DE RECHERCHE DES CORDELIERS   (France)

ⁱ ROYAL CHILDREN'S HOSPITAL   (Australia)

^j INSERM   (France)

^k ARMAND TROUSSEAU HOSPITAL   (France)

^l UNIVERSITÉ DE TOULOUSE   (France)

^m HÔPITAL ROBERT DEBRÉ   (France)

ⁿ APHP Robert Debré University Hospital ^*  (France)

^o NANTES UNIVERSITY HOSPITAL   (France)

^p AL NAHDHA HOSPITAL   (Oman)

^q UNIVERSITÉ DE STRASBOURG   (France)

^r INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^s Hôpitaux Universitaires de Strasbourg   (France)

^t UNIVERSITY OF ZURICH   (Switzerland)

^u UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^v Service de Génétique Médicale Maternité   (Switzerland)

^w Health Sciences School   (Switzerland)

^x UNIVERSITY OF BRASILIA   (Brazil)

^y STATE UNIVERSITY OF MONTES CLAROS   (Brazil)

^z UNIVERSITY OF CAMPINAS   (Brazil)

^aa NORTHWESTERN UNIVERSITY   (United States)

^ab Janet Weis Children s Hospital   (United States)

^ac YEDITEPE UNIVERSITY   (Turkey)

^ad UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^ae NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^af UNIVERSITY OF MÜNSTER   (Germany)

more..

Author keywords

Amelogenesis imperfecta; FAM20B; FAM20C; Nephrolithiasis; Urolithiasis

Indexed keywords

ADOLESCENT; ADULT; AMELOGENESIS IMPERFECTA; ARTICLE; CHILD; CLINICAL ARTICLE; EXOME; FAM20A GENE; FEMALE; GENE; GENE MUTATION; GINGIVA HYPERPLASIA; HUMAN; KIDNEY CALCIFICATION; LINKAGE ANALYSIS; MALE; PATHOGENESIS; PRIORITY JOURNAL; SCHOOL CHILD; TOOTH DISEASE;

ADOLESCENT; ADULT; AMELOGENESIS IMPERFECTA; CHILD; CONSANGUINITY; DENTAL ENAMEL PROTEINS; EXOME; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MIDDLE AGED; MUTATION; NEPHROCALCINOSIS; PEDIGREE; SEQUENCE ANALYSIS, DNA; SYNDROME; YOUNG ADULT;

EID: 84876377978     PISSN: None     EISSN: 16602137     Source Type: Journal    
DOI: 10.1159/000349989     Document Type: Article

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