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CrossRef Text and Data Mining | |
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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 March 31, 2020 DOI: https://doi.org/10.6065/apem.2020.25.1.63 |
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Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets Targeted Hotspot Gene Panel Using Massively Parallel Sequencing (Next Generation Sequencing) A NovelPHEXGene Mutation in a Patient with Sporadic Hypophosphatemic Rickets Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets |