X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant
Soto Barros J, Sanchez S, Cabral K, Beggs A, Agrawal P, Genetti C, Brownstein C, Carpenter T. X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant. Bone 2023, 172: 116763. PMID: 37059315, PMCID: PMC10198939, DOI: 10.1016/j.bone.2023.116763.Peer-Reviewed Original Research