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, Maltoni G, Schiano di Cola R, Del Giudice EM, Grandone A.
Aiello F, et al. Among authors: grandone a.
J Pediatr Endocrinol Metab. 2022 Nov 10;36(1):91-95. doi: 10.1515/jpem-2022-0365. Print 2023 Jan 27.
J Pediatr Endocrinol Metab. 2022.
PMID: 36351286