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

Jaureguiberry, G; De la Dure-Molla, M; Parry, D; Quentric, M; Himmerkus, N; Koike, T; Poulter, J; ... Kleta, R; + view all (2012) Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiology , 122 (1-2) 1 - 6. 10.1159/000349989. Green open access

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Abstract

Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.

Type: Article
Title: Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
Location: Switzerland
Open access status: An open access version is available from UCL Discovery
DOI: 10.1159/000349989
Publisher version: http://dx.doi.org/10.1159/000349989
Language: English
Additional information: Open Access License: 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. PMCID: PMC3782194
Keywords: 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
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Oncology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Nephrology
URI: https://discovery.ucl.ac.uk/id/eprint/1388316
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