OR13-3 Hypophosphatemia Gene Panel Sponsored Program: A High Yield of Molecular Diagnoses from Clinically Confirmed XLH and Suspected Genetic Hypophosphatemia

INTRODUCTION: X-linked hypophosphatemia (XLH), a dominant disorder caused by disease-associated variants in the PHEX gene, affects males and females of all ages. Rickets and osteomalacia may be present along with short stature, lower limb deformity, muscle pain and/or weakness/fatigue, bone pain, fr...

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Detalles Bibliográficos
Autores principales: Japalaghi, Omid K, McLaughlin, Heather, Miller, Nicole, Ramesan, Prameela, Rush, Eric, Yong, Jillian, Dahir, Kathryn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Bone & Mineral Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624914/
http://dx.doi.org/10.1210/jendso/bvac150.396

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624914/
http://dx.doi.org/10.1210/jendso/bvac150.396

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