Tag: genetic disorder

First oral drug shows promise in childhood achondroplasia: Phase 3 trial results

A Phase 3 trial published in the New England Journal of Medicine shows that oral infigratinib increases growth velocity by…

SERPINA12 Gene Mutations Identified as New Cause of Hereditary Palmoplantar Keratoderma

Researchers identify SERPINA12 gene mutations as a novel cause of hereditary palmoplantar keratoderma. The discovery expands genetic testing options for…