The diagnostic odyssey in children and adolescents with X-linked hypophosphataemia: population-based, case-control study.
Freya Boardman-PrettyAshley Kieran CliftHadley MahonNadine SawokyM Zulf MughalPublished in: The Journal of clinical endocrinology and metabolism (2024)
This characterisation of the EHR phenotypes of children and adolescents with XLH may inform future case-finding approaches to expedite diagnosis in primary care.