SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria - Hasani-Ranjbar, Shirin; Ejtahed, Hanieh-Sadat; Amoli, Mahsa M.; Bitarafan, Fatemeh; Qorbani, Mostafa; Soltani, Akbar; Yarjoo, Bahareh (Journal of clinical research in pediatric endocrinology, 2018)
Keywords: Adolescent; Adult; Child; Child, Preschool; Familial Hypophosphatemic Rickets - complications; Familial Hypophosphatemic Rickets - genetics; Family Health; Family medical history; Female; Gene Deletion; Gene expression; Gene mutation; Genetic counseling; Genotype; Homeostasis; Humans; Hypercalciuria - complications; Hypercalciuria - genetics; Introns - genetics; Iran; Male; Metabolic diseases; Middle Aged; Mutation; Original; Osteoporosis; Patients; Pedigree; Phosphatase; Phosphorus; Sodium-Phosphate Cotransporter Proteins, Type IIc - genetics; Statistical analysis; Tıp; Urine; Vitamin D; Iran; İstanbul; Türkiye; United States--US; hypercalciuria; Hereditary hypophosphatemic rickets with hypercalciuria; SLC34A3 gene; hypophosphatemia