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

Jaureguiberry, Graciana

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