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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...

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Detalles Bibliográficos
Autores principales: Schiró, Laura María, Núñez, Hilda Tatiana Martínez, Rodriguez, Patricia, Giacoia, Evangelina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208655/
http://dx.doi.org/10.1210/jendso/bvaa046.2022