Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.
Aiello F, Pasquali D, Baronio F, Cassio A, Rossi C, Di Fraia R, Carotenuto R, Digitale L, Festa A, Luongo C, et al. J Pediatr Endocrinol Metab. 2023 Jan 27; 36(1):91-95. Epub 2022 Nov 10.