Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Mattioli, Francesca

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. [electronic resource] - American journal of human genetics Jan 2017 - 105-116 p. digital

Publication Type: Journal Article

1537-6605

10.1016/j.ajhg.2016.11.010 doi


Acetylation
Adaptor Proteins, Signal Transducing--genetics
Adult
Blepharophimosis--genetics
Blepharoptosis--genetics
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 3--genetics
DNA-Binding Proteins
Female
Frameshift Mutation
Genes, Dominant--genetics
Haploinsufficiency--genetics
Histone Acetyltransferases--metabolism
Humans
Intellectual Disability--genetics
Male
Methyltransferases--deficiency
Muscle Hypotonia--genetics
Mutation
Nuclear Proteins--genetics
Phenotype
Syndrome