A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature-Reference-Cited by-同舟云学术

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A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature

Published:2020-10-19 Issue:1 Volume:30 Page:39-43
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Pelle Alessandra,Pezzoli Laura,Apuril Erika,Iascone Maria,Selicorni Angelo

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference13 articles.

1. Isolation and characterization of two human H1 histone genes within clusters of core histone genes.;Albig;Genomics,1991

2. Expert consensus document: clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.;Brioude;Nat Rev Endocrinol,2018

3. 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.;Burkardt;Am J Med Genet A,2019

4. Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.;Ciolfi;Clin Epigenetics,2020

5. Epigenetics and autism spectrum disorder: a report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.;Duffney;Am J Med Genet B Neuropsychiatr Genet,2018

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4;Human Molecular Genetics;2021-11-12

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