Login / Signup

Uncovering genetic causes of hypophosphatemia.

Nuria PuentePablo DocioMaría T García UnzuetaBernardo A LavínAinhoa MaiztegiAna Isabel VegaMaría PiedraLeyre Riancho-ZarrabeitiaFátima MateosDomingo Gonzalez-LamuñoCarmen ValeroJosé A Riancho
Published in: Journal of internal medicine (2023)
Genetic causes should be considered in children, but also in adult patients with hypophosphatemia of unknown origin. Our data are consistent with the conception that XLH is the most common cause of genetic hypophosphatemia with an overt musculoskeletal phenotype. This article is protected by copyright. All rights reserved.
Keyphrases
  • genome wide
  • copy number
  • young adults
  • gene expression
  • dna methylation
  • electronic health record
  • deep learning
  • data analysis