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

X-linked hypophosphatemia (XLH), a dominant disorder caused by a disease-associated variant 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, joint pain/stif...

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Detalles Bibliográficos
Autores principales:	Dahir, Kathryn, Rush, Eric, Beltran, Daniel, Eisenbeis, Scott, Johnson, Britt, Ramesan, Prameela, Sarafrazi, Soodabeh, Truty, Rebecca, Miller, Nicole
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Bone and Mineral Metabolism
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8265956/ http://dx.doi.org/10.1210/jendso/bvab048.533

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