SUN-363 Hypophosphatemia Gene Panel Sponsored Program: A High Yield Of Molecular Diagnoses from Clinically Confirmed XLH and Suspected XLH/ Genetic Hypophosphatemia

X-linked hypophosphatemia (XLH), an X-linked dominant disorder caused by a pathogenic change (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, join...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Miller, Nicole, Dahir, Kathryn, Beltran, Daniel, Eisenbeis, Scott J, Ramesan, Prameela, Rush, Eric T, Sarafrazi, Soodabeh, Truty, Rebecca, Johnson, Britt
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Bone and Mineral Metabolism
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208966/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.434
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