Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. [electronic resource]
- Nephron. Physiology 2012
- 1-6 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
1660-2137
10.1159/000349989 doi
Adolescent Adult Amelogenesis Imperfecta--complications Child Consanguinity Dental Enamel Proteins--genetics Exome--genetics Family Health Female Genes, Recessive--genetics Genetic Predisposition to Disease--genetics Genome-Wide Association Study Humans Male Middle Aged Mutation Nephrocalcinosis--complications Pedigree Sequence Analysis, DNA--methods Syndrome Young Adult