Mendelian Disorders of the Epigenetic Machinery

 

Mendelian disorders of the epigenetici machinery, Kabuki being one of these, are a newly delineatedi group of multiple congenitali anomalyi and intellectual disability syndromes resulting from mutations in genesi encoding components of the epigenetic machinery. The authors highlight the epigenetic imbalance created by some of these conditions and suggest that novel therapeutic strategies for patients with these disorders may be possible.

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