A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia

X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, is due to inactivation of PHEX, resulting in increased circulating fibroblast growth factor 23. Consequent renal phosphate loss leads to hypophosphatemia, rickets, and progressive bow deformity. Inheritance is X-linked domi...

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Detalles Bibliográficos
Autores principales: Kayser, Michelle, Jain, Preti, Bale, Allen, Carpenter, Thomas O
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10586592/
https://www.ncbi.nlm.nih.gov/pubmed/37908207
http://dx.doi.org/10.1210/jcemcr/luad082

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10586592/
https://www.ncbi.nlm.nih.gov/pubmed/37908207
http://dx.doi.org/10.1210/jcemcr/luad082

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