X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro

BACKGROUND: X‐linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the diagnosis, such as genetic testing. METHODS: Through a cross‐sectional and observational...

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Detalles Bibliográficos
Autores principales: Sant’ Ana, Iara, Torrini, Renato, Alves Coelho, Maria Caroline, Cantoni, Joyce, Madeira, Miguel, Ribeiro, Márcia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184672/
https://www.ncbi.nlm.nih.gov/pubmed/35384411
http://dx.doi.org/10.1002/mgg3.1941

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184672/
https://www.ncbi.nlm.nih.gov/pubmed/35384411
http://dx.doi.org/10.1002/mgg3.1941

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