Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak
Ann Pediatr Endocrinol Metab. 2020;25(1):63-67.   Published online 2020 Mar 31     DOI: https://doi.org/10.6065/apem.2020.25.1.63
Citations to this article as recorded by Crossref logo
A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets
Sejin Kim, Sungsoo Kim, Namhee Kim
Journal of Genetic Medicine.2022; 19(1): 27.     CrossRef
Rare PHEX variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia
Cathrine Constantacos, Janel Darcy Hunter, Elizabeth Tharpe Walsh, Andrew Michael South
BMJ Case Reports.2021; 14(5): e240336.     CrossRef