Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. [electronic resource]
Producer: 20170524Description: 105-116 p. digitalISSN:- 1537-6605
- 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
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Publication Type: Journal Article
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