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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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DESSH DeSanto-Shinawi Syndrome Corporation is recognized by the IRS as a 501(c)(3) tax-exempt public charity.

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