top of page

Medical Articles

OMIM

An Online Catalog of Human Genes and Genetic Disorders

European Journal of Human Genetics

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits 

Journal of Medical Genetics - The BMJ

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate

AdobeStock_532311024.jpeg
bottom of page