Publication: Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
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Jaureguiberry, G., & et al. (2012). Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiology, 122(1–2), 1–6. https://doi.org/10.1159/000349989
Abstract
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Abstract
BACKGROUND/AIMS: 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. METHODS: We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative
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- Jaureguiberry, Graciana
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Jaureguiberry, G., & et al. (2012). Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiology, 122(1–2), 1–6. https://doi.org/10.1159/000349989
