Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
May 4, 2017 – Tatton-Brown et al
Epigenetics and Autism Spectrum Disorders – A Report of an Autism Case with Mutation in H1 Linker Histone HIST1H1e and Literature Review
April 27, 2018 – Duffney et al
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
September 5, 2019 – Flex et al
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
October 2019 – Burkardt et al
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
January 7, 2020 – Ciolfi et al
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.
March 2022 - Zhao J, Lyu G, Ding C, Wang X, Li J, Zhang W, Yang X, Zhang VW.
Growth pattern of Rahman syndrome.
March 2019 - Takenouchi T, Uehara T, Kosaki K, Mizuno S.