SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria
Shirin Hasani-RanjbarHanieh-Sadat EjtahedMahsa M. AmoliFatemeh BitarafanMostafa QorbaniAkbar SoltaniBahareh YarjooPublished in: Journal of clinical research in pediatric endocrinology (2018)
Genetic counseling and screening for SLC34A3 mutations can be helpful in adult onset phenotype with unexplained osteoporosis, bone deformities and especial recurrent renal stones. In subjects with vitamin D deficiency the results should be interpreted cautiously.