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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
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