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SAT-LB66 X Linked Rickets: Description of 16 Cases in the Adulthood in Argentina
Introduction. X-linked hypophosphatemic rickets (XLH) is an inherited disorder that results from an inactivating mutation of the PHEX gene. The familiar form comprises most cases. Its incidence is 4.8 per 100000 persons (Haffner D et al., 2019). XLH is characterized by bowed or bent legs, short stat...
Autores principales: | Schiró, Laura María, Núñez, Hilda Tatiana Martínez, Rodriguez, Patricia, Giacoia, Evangelina |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208655/ http://dx.doi.org/10.1210/jendso/bvaa046.2022 |
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