TY  - GEN
AU  - Simpson,Michael A
AU  - Deshpande,Charu
AU  - Dafou,Dimitra
AU  - Vissers,Lisenka E L M
AU  - Woollard,Wesley J
AU  - Holder,Susan E
AU  - Gillessen-Kaesbach,Gabriele
AU  - Derks,Ronny
AU  - White,Susan M
AU  - Cohen-Snuijf,Ruthy
AU  - Kant,Sarina G
AU  - Hoefsloot,Lies H
AU  - Reardon,Willie
AU  - Brunner,Han G
AU  - Bongers,Ernie M H F
AU  - Trembath,Richard C
TI  - De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome
SN  - 1537-6605
PY  - 2012///0619
KW  - Acetylation
KW  - Alleles
KW  - Animals
KW  - Exome
KW  - Exons
KW  - Female
KW  - Histone Acetyltransferases
KW  - genetics
KW  - Histones
KW  - metabolism
KW  - Humans
KW  - Intellectual Disability
KW  - enzymology
KW  - Male
KW  - Mice
KW  - Musculoskeletal Abnormalities
KW  - Mutation
KW  - Sequence Analysis, DNA
KW  - methods
KW  - Urogenital Abnormalities
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2011.11.024
ER  -