ATR-X syndrome: genetics, clinical spectrum, and management
Nayla Y. León, Vincent R. Harley
Topics & Concepts
ATRXBiologyHuman geneticsGenetic counselingNoonan syndromeGermlineGermline mutationGenetic testingGeneticsIntellectual disabilityBioinformaticsMutationGeneGenetics and Neurodevelopmental DisordersChromatin Remodeling and CancerPeptidase Inhibition and Analysis