A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
Author:
Publisher
Korean Society of Pediatric Endocrinology
Subject
Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
http://e-apem.org/upload/pdf/apem-2018-23-4-229.pdf
Reference19 articles.
1. Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets
2. Loss of Renal Phosphate Wasting in a Child with Autosomal Dominant Hypophosphatemic Rickets Caused by a FGF23 Mutation
3. Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3
4. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
Cited by 9 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Identification of Rare and Novel PHEX Variants in X-linked Hypophosphatemia;The Journal of Clinical Endocrinology & Metabolism;2024-05-09
2. A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets;Journal of Genetic Medicine;2022-06-30
3. Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets;Calcified Tissue International;2021-09-06
4. Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults;Endokrynologia Polska;2021-08-11
5. A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl;Journal of Pediatric Genetics;2021-06-01
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