Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone
Dreimane D, Chen A, Bergwitz C. Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone. Therapeutic Advances In Musculoskeletal Disease 2020, 12: 1759720x20912862. PMID: 32963591, PMCID: PMC7488884, DOI: 10.1177/1759720x20912862.Peer-Reviewed Original ResearchRecombinant human growth hormoneHereditary hypophosphatemic ricketsOral phosphate supplementationAffected brothersHuman growth hormoneHypophosphatemic ricketsResponse to rhGHBorn to unrelated parentsSequence analysisParameters of mineral homeostasisPhosphate supplementationRenal phosphate leakWhole-exome sequencing analysisGrowth hormone therapyGrowth hormoneBiochemical parameters of mineral homeostasisAccelerated linear growthImprove linear growthUrine biochemical parametersAutosomal recessive disorderRenal phosphate reabsorptionAffected brotherExome sequencing analysisWhole-exome sequencingSanger sequencing analysis