Ontology highlight
ABSTRACT:
SUBMITTER: Arboleda VA
PROVIDER: S-EPMC4375619 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Arboleda Valerie A VA Lee Hane H Dorrani Naghmeh N Zadeh Neda N Willis Mary M Macmurdo Colleen Forsyth CF Manning Melanie A MA Kwan Andrea A Hudgins Louanne L Barthelemy Florian F Miceli M Carrie MC Quintero-Rivera Fabiola F Kantarci Sibel S Strom Samuel P SP Deignan Joshua L JL Grody Wayne W WW Vilain Eric E Nelson Stanley F SF
American journal of human genetics 20150226 3
Chromatin remodeling through histone acetyltransferase (HAT) and histone deactylase (HDAC) enzymes affects fundamental cellular processes including the cell-cycle, cell differentiation, metabolism, and apoptosis. Nonsense mutations in genes that are involved in histone acetylation and deacetylation result in multiple congenital anomalies with most individuals displaying significant developmental delay, microcephaly and dysmorphism. Here, we report a syndrome caused by de novo heterozygous nonsen ...[more]