TY  - GEN
AU  - Clayton-Smith,Jill
AU  - O'Sullivan,James
AU  - Daly,Sarah
AU  - Bhaskar,Sanjeev
AU  - Day,Ruth
AU  - Anderson,Beverley
AU  - Voss,Anne K
AU  - Thomas,Tim
AU  - Biesecker,Leslie G
AU  - Smith,Philip
AU  - Fryer,Alan
AU  - Chandler,Kate E
AU  - Kerr,Bronwyn
AU  - Tassabehji,May
AU  - Lynch,Sally-Ann
AU  - Krajewska-Walasek,Malgorzata
AU  - McKee,Shane
AU  - Smith,Janine
AU  - Sweeney,Elizabeth
AU  - Mansour,Sahar
AU  - Mohammed,Shehla
AU  - Donnai,Dian
AU  - Black,Graeme
TI  - Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
SN  - 1537-6605
PY  - 2012///0221
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adult
KW  - Animals
KW  - Blepharophimosis
KW  - Child
KW  - Chromatin
KW  - metabolism
KW  - Chromosomes, Human, Pair 10
KW  - Codon, Nonsense
KW  - Congenital Hypothyroidism
KW  - Exome
KW  - Facies
KW  - Female
KW  - Gene Expression Regulation, Developmental
KW  - Heart Defects, Congenital
KW  - Histone Acetyltransferases
KW  - deficiency
KW  - Humans
KW  - INDEL Mutation
KW  - Intellectual Disability
KW  - Joint Instability
KW  - Male
KW  - Metabolism, Inborn Errors
KW  - Mice
KW  - Mice, Transgenic
KW  - Microarray Analysis
KW  - Polymorphism, Single Nucleotide
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2011.10.008
ER  -