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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Endocr Soc
Autori principali: Miller, Nicole, Dahir, Kathryn, Beltran, Daniel, Eisenbeis, Scott J, Ramesan, Prameela, Rush, Eric T, Sarafrazi, Soodabeh, Truty, Rebecca, Johnson, Britt
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
Soggetti:
Bone and Mineral Metabolism
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208966/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.434
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi