Mattioli, Francesca <br/><br/>
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 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2016.11.010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acetylation<br/>Adaptor Proteins, Signal Transducing--genetics<br/>Adult<br/>Blepharophimosis--genetics<br/>Blepharoptosis--genetics<br/>Child<br/>Child, Preschool<br/>Chromosome Deletion<br/>Chromosomes, Human, Pair 3--genetics<br/>DNA-Binding Proteins<br/>Female<br/>Frameshift Mutation<br/>Genes, Dominant--genetics<br/>Haploinsufficiency--genetics<br/>Histone Acetyltransferases--metabolism<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Methyltransferases--deficiency<br/>Muscle Hypotonia--genetics<br/>Mutation<br/>Nuclear Proteins--genetics<br/>Phenotype<br/>Syndrome