Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
(2012) Nephron - Physiology — Vol. 122, n° 1-2, p. 1-6 (2012)
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- Abstract
- This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis.
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Citations
Jaureguiberry, G., De la Dure-Molla, M., Parry, D., Quentric, M., Himmerkus, N., Koike, T., Poulter, J., Klootwijk, E., Robinette, S. L., Howie, A. J., Patel, V., Figueres, M.-L., Stanescu, H. C., Issler, N., Nicholson, J. K., Bockenhauer, D., Laing, C., Walsh, S. B., McCredie, D. A., 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 (Original work published 2012)