The Diagnostic Odyssey in Children and Adolescents With X-linked Hypophosphatemia: Population-Based, Case-Control Study.
Freya Boardman-PrettyAshley Kieran CliftHadley MahonNadine SawokyM Zulf MughalPublished in: The Journal of clinical endocrinology and metabolism (2024)
This characterization of the EHR phenotypes of children and adolescents with XLH may inform future case-finding approaches to expedite diagnosis in primary care.