Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.

Tessadori, Federico

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. [electronic resource] - Nature genetics Nov 2017 - 1642-1646 p. digital

Publication Type: Journal Article

1546-1718

10.1038/ng.3956 doi


Adolescent
Animals
Apoptosis
Cell Cycle Checkpoints
Child
DNA Damage
DNA Repair
Developmental Disabilities--diagnosis
Embryo, Nonmammalian
Female
Gene Expression Regulation, Developmental
Genomic Instability
Germ-Line Mutation
Histones--genetics
Humans
Infant
Intellectual Disability--diagnosis
Microcephaly--diagnosis
Mutation, Missense
Nucleosomes--chemistry
Syndrome
Zebrafish--genetics