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

Inactivating mutations of the gene coding for phosphate‐regulating endopeptidase homolog X‐linked (PHEX) cause X‐linked hypophosphatemia (XLH). A novel PHEX variant, c.*231A>G; exon 13–15 duplication, has emerged as a common cause of XLH in North America, emphasizing the importance of delineating...

Descripción completa

Detalles Bibliográficos
Autores principales: Dahir, Kathryn McCrystal, Black, Margo, Gottesman, Gary S, Imel, Erik A, Mumm, Steven, Nichols, Cindy M, Whyte, Michael P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9751662/
https://www.ncbi.nlm.nih.gov/pubmed/36530187
http://dx.doi.org/10.1002/jbm4.10692

Ejemplares similares

Ejemplares similares