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Home Page - Kabuki Syndrome Registry
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https://pubmed.ncbi.nlm.nih.gov/29255178/
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
Kabuki syndrome is a monogenic disorder caused by loss of function variants in either of two genes encoding histone-modifying enzymes. We performed targeted...
kabuki syndromedna methylationpatientsphenotypedemonstrate