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A custom phenotypic profile for Fanconi anemia: Addressing gaps in existing disease annotations.
Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions.
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.
Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure.
Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.