ArticleClinical endocrinology2011
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.
Article in Clinical endocrinology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Burosumab Efficacy and Safety in Patients with X-Linked Hypophosphatemia: Systematic Review and Meta-analysis of Real-World Data.Calcified tissue international · 2024Pooled it
- Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature.Endocrine journal · 2025Review
- Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation.Diagnostics (Basel, Switzerland) · 2025Article
- Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.Cell death & disease · 2022Article
- Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018.Lancet regional health. Americas · 2022Article
- Identification of a Novel Missense Mutation of theFrontiers in genetics · 2022Article
- General gene expression patterns and stemness of the gingiva and dental pulp.Journal of dental sciences · 2022Article
- Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.Frontiers in endocrinology · 2021Review
- Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.Frontiers in cell and developmental biology · 2021Article
- Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia.Journal of endocrinological investigation · 2020Article
- Mineralized tissues in hypophosphatemic rickets.Pediatric nephrology (Berlin, Germany) · 2020Review
- A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family.Molecular genetics & genomic medicine · 2020Article
- Review
- Phenotypes of a family with XLH with a novelHuman genome variation · 2020Article
- Milk Products in the Treatment of Hypophosphatemic Rickets: A Pilot Study.International journal of endocrinology and metabolism · 2019Article
- Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.Nature reviews. Nephrology · 2019Article
- Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2017Article
- Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.PloS one · 2014Article
- Insights from genetic disorders of phosphate homeostasis.Seminars in nephrology · 2013Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundX-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively.
objectiveThe objective of the study was to evaluate the frequency of mutations that occur in these three genes associated with hypophosphatemic rickets. PATIENTS AND
methodsIn this study, we sequenced these genes in 76 members of 46 kindreds from a large hypophosphatemic rickets cohort.
resultsForty-two individuals from 27 kindreds were found to have mutations in PHEX; 16 of which were novel. One subject had an FGF23 mutation. No individuals were found to have mutations in DMP1 consistent with the presence of recessive hypophosphatemic rickets.
conclusionsOur data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.