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A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
In Hwa Jeong, Jae-Ho Yoo, Namhee Kim
Ann Pediatr Endocrinol Metab. 2021;26(2):130-133.   Published online June 30, 2021
DOI: https://doi.org/10.6065/apem.2040186.093

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A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
Annals of Pediatric Endocrinology & Metabolism. 2021;26(2):130-133   Crossref logo
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A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets
Journal of Genetic Medicine. 2022;19(1):27-31   Crossref logo
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SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation
Journal of the Endocrine Society. 2020;4(Supplement_1):   Crossref logo
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Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets
Clinical Endocrinology. 2011;74(3):312-318   Crossref logo
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Effects of mutated PHEX causing X-linked hypophosphatemic rickets on the bone matrix mineralization in a 15-yr-old patient
Bone. 2009;44:S285   Crossref logo
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Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets
Nephron Physiology. 2010;116(3):p17-p21   Crossref logo
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A novel mutation of PHEX causes a dominant X-linked hypophosphatemic rickets
Bone. 2007;40(6):S62   Crossref logo
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Two Novel PHEX Mutations in Taiwanese Patients with X-Linked Hypophosphatemic Rickets
Nephron Physiology. 2006;103(4):p157-p163   Crossref logo
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PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
Journal of Korean Medical Science. 2007;22(6):981   Crossref logo
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
Annals of Pediatric Endocrinology & Metabolism. 2018;23(4):229-234   Crossref logo
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