Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Bibliographic Details
Main Authors:	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
Format:	Online
Language:	English
Published:	S. Karger AG 2013
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194/

id	pubmed-3782194
recordtype	oai_dc
spelling	pubmed-37821942013-10-04 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 Original Paper S. Karger AG 2013-04 2013-02-23 /pmc/articles/PMC3782194/ /pubmed/23434854 http://dx.doi.org/10.1159/000349989 Text en Copyright © 2012 by S. Karger AG, Basel http://creativecommons.org/licenses/by/3.0/ This is an Open Access article licensed under the terms of the Creative Commons Attribution 3.0 Unported license (CC BY 3.0) (www.karger.com/OA-license-WT), applicable to the online version of the article only. Users may download, print and share this work on the Internet, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	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
spellingShingle	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 Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
author_facet	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
author_sort	Jaureguiberry, Graciana
title	Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
title_short	Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
title_full	Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
title_fullStr	Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
title_full_unstemmed	Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
title_sort	nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive fam20a mutations
description
publisher	S. Karger AG
publishDate	2013
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194/
_version_	1612013998419476480

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

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