A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype

AIM: X-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. The main purpose of this study is to identify the presence of a genotype–phenotype correlati...

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Detalles Bibliográficos
Autores principales: Borghi, Mauro, da Silva, Leopoldo Muniz, Bispo, Luciana, Longui, Carlos A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10546205/
https://www.ncbi.nlm.nih.gov/pubmed/37794959
http://dx.doi.org/10.3389/fped.2023.1215952

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10546205/
https://www.ncbi.nlm.nih.gov/pubmed/37794959
http://dx.doi.org/10.3389/fped.2023.1215952

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