X‐Linked Hypophosphatemia Caused by the Prevailing North American <scp> <i>PHEX</i> </scp> Variant <scp>c.*231A>G</scp> ; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women-Reference-Cited by-同舟云学术

X‐Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G ; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women

Published:2022-11-02 Issue:12 Volume:6 Page:
ISSN:2473-4039
Container-title:JBMR Plus
language:en
Short-container-title:JBMR Plus

Author:

Dahir Kathryn McCrystal¹^ORCID,Black Margo¹,Gottesman Gary S²³,Imel Erik A⁴^ORCID,Mumm Steven²³^ORCID,Nichols Cindy M⁵,Whyte Michael P²³

Affiliation:

1. Program for Metabolic Bone Disorders, Division of Endocrinology Vanderbilt University Medical Center Nashville TN USA

2. Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine St. Louis MO USA

3. Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children–St. Louis St. Louis MO USA

4. Departments of Medicine and Pediatrics, Division of Endocrinology Indiana University School of Medicine Indianapolis IN USA

5. College of Education and Behavioral Sciences, Arkansas State University Jonesboro AR USA

Funder

Shriners Hospitals for Children

Foundation for Barnes-Jewish Hospital

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbm4.10692

Reference32 articles.

1. X-Linked Hypophosphatemia: A New Era in Management

2. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

3. A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets

4. Fibroblast Growth Factor 23 in Oncogenic Osteomalacia and X-Linked Hypophosphatemia

5. Osteocytic FGF23 and Its Kidney Function

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2. XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH);Orphanet Journal of Rare Diseases;2023-10-27

3. X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant;Bone;2023-07

4. Insights into the Molecular and Hormonal Regulation of Complications of X-Linked Hypophosphatemia;Endocrines;2023-03-03

5. Presentation and Diagnosis of Pediatric X-Linked Hypophosphatemia;Endocrines;2023-02-22