Enamel renal syndrome: a novel homozygous fam20a founder mutation in 5 new brazilian families

ConclusionsOur results reinforce the distinct orofacial features of ERS, which are the clue for kidney examination and genetic testing. Here we report the largest series of patients with ERS of the same population, and describe, for the first time, a founder mutation for FAM20A gene. FAPEMIG, FAPESP, CAPES.
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research