SAT-360 Out of Sight, out of Mind: PHEX 3’-UTR C.*231A>G X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype

Title: Out of Sight, Out of Mind: PHEX 3’-UTR c.*231A>G X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype X-linked hypophosphatemia (XLH) is an inherited form of hypophosphatemia that is part of a group of disorders that leads to impaired bo...

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Detalles Bibliográficos
Autores principales: Williams, Alexander, Black, Margo, Dahir, Kathryn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Bone and Mineral Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208542/
http://dx.doi.org/10.1210/jendso/bvaa046.146

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208542/
http://dx.doi.org/10.1210/jendso/bvaa046.146

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