TY  - GEN
AU  - Mattioli,Francesca
AU  - Schaefer,Elise
AU  - Magee,Alex
AU  - Mark,Paul
AU  - Mancini,Grazia M
AU  - Dieterich,Klaus
AU  - Von Allmen,Gretchen
AU  - Alders,Marielle
AU  - Coutton,Charles
AU  - van Slegtenhorst,Marjon
AU  - Vieville,Gaëlle
AU  - Engelen,Mark
AU  - Cobben,Jan Maarten
AU  - Juusola,Jane
AU  - Pujol,Aurora
AU  - Mandel,Jean-Louis
AU  - Piton,Amélie
TI  - Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
SN  - 1537-6605
PY  - 2017///0524
KW  - Acetylation
KW  - Adaptor Proteins, Signal Transducing
KW  - genetics
KW  - Adult
KW  - Blepharophimosis
KW  - Blepharoptosis
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 3
KW  - DNA-Binding Proteins
KW  - Female
KW  - Frameshift Mutation
KW  - Genes, Dominant
KW  - Haploinsufficiency
KW  - Histone Acetyltransferases
KW  - metabolism
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Methyltransferases
KW  - deficiency
KW  - Muscle Hypotonia
KW  - Mutation
KW  - Nuclear Proteins
KW  - Phenotype
KW  - Syndrome
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ajhg.2016.11.010
ER  -