Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states
JA Fahrner, HT Bjornsson - Annual review of genomics and …, 2014 - annualreviews.org
Mendelian disorders of the epigenetic machinery are a newly delineated group of multiple
congenital anomaly and intellectual disability syndromes resulting from mutations in genes
encoding components of the epigenetic machinery. The gene products affected in these
inherited conditions act in trans and are expected to have widespread epigenetic
consequences. Many of these syndromes demonstrate phenotypic overlap with classical
imprinting disorders and with one another. The various writer and eraser systems involve …
congenital anomaly and intellectual disability syndromes resulting from mutations in genes
encoding components of the epigenetic machinery. The gene products affected in these
inherited conditions act in trans and are expected to have widespread epigenetic
consequences. Many of these syndromes demonstrate phenotypic overlap with classical
imprinting disorders and with one another. The various writer and eraser systems involve …