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Sharing Diagnostic Insights to Support Rare Disease Patients

Maha S Zaki et al.
June 24, 2021

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Defining a disorder’s complete clinical spectrum requires a detailed description of large numbers of patients. To help advance the understanding of rare diseases, CENTOGENE is committed to leveraging its extensive Bio/Databank and sharing its diagnostic insights within the scientific community. A pertinent study of a rare neurodevelopmental disorder using these insights was recently published in the European Journal of Human Genetics.