Large Patient Cohort Enables Insights into a Rare Disease
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype
Farber disease (FD) is a severe disorder for which rarity has hampered a comprehensive understanding. A recent study on a large cohort of patients provides unprecedented novel insights into FD. The study, to which CENTOGENE contributed genetic as well as biomarker data, was published in Clinical Genetics.