Delayed Diagnosis, Difficult Decisions: Novel Gene Deletion Causing X-Linked Hypophosphatemia in a Middle-Aged Man with Achondroplastic Features and Tertiary Hyperparathyroidism

X-linked hypophosphatemia (XLH) is the most prevalent form of hereditary hypophosphatemic rickets associated with phosphate wasting. However, its diagnosis is often missed, resulting in patients presenting late in the course of the disease when complications such as tertiary hyperparathyroidism and...

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Detalles Bibliográficos
Autores principales: Chin, Yun Ann, Zhao, Yi, Tay, Gerald, Sim, Weiying, Chow, Chun Yuen, Chandran, Manju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8064789/
https://www.ncbi.nlm.nih.gov/pubmed/33953992
http://dx.doi.org/10.1155/2021/9944552

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8064789/
https://www.ncbi.nlm.nih.gov/pubmed/33953992
http://dx.doi.org/10.1155/2021/9944552

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