Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program

X‐linked hypophosphatemia (XLH), a dominant disorder caused by pathogenic variants in the PHEX gene, affects both sexes of all ages and results in elevated serum fibroblast growth factor 23 (FGF23) and below‐normal serum phosphate. In XLH, rickets, osteomalacia, short stature, and lower limb deformi...

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Detalles Bibliográficos
Autores principales: Rush, Eric T., Johnson, Britt, Aradhya, Swaroop, Beltran, Daniel, Bristow, Sara L., Eisenbeis, Scott, Guerra, Norma E., Krolczyk, Stan, Miller, Nicole, Morales, Ana, Ramesan, Prameela, Sarafrazi, Soodabeh, Truty, Rebecca, Dahir, Kathryn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298723/
https://www.ncbi.nlm.nih.gov/pubmed/34633109
http://dx.doi.org/10.1002/jbmr.4454

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298723/
https://www.ncbi.nlm.nih.gov/pubmed/34633109
http://dx.doi.org/10.1002/jbmr.4454

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