TY  - GEN
AU  - Tham,Emma
AU  - Lindstrand,Anna
AU  - Santani,Avni
AU  - Malmgren,Helena
AU  - Nesbitt,Addie
AU  - Dubbs,Holly A
AU  - Zackai,Elaine H
AU  - Parker,Michael J
AU  - Millan,Francisca
AU  - Rosenbaum,Kenneth
AU  - Wilson,Golder N
AU  - Nordgren,Ann
TI  - Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features
SN  - 1537-6605
PY  - 2015///0512
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Comparative Genomic Hybridization
KW  - Exome
KW  - Female
KW  - Gene Deletion
KW  - Genetic Loci
KW  - Heterozygote
KW  - Histone Acetyltransferases
KW  - genetics
KW  - Humans
KW  - Infant
KW  - Intellectual Disability
KW  - Male
KW  - Microcephaly
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
N1  - Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2015.01.016
ER  -