TY  - GEN
AU  - Schuurs-Hoeijmakers,Janneke H M
AU  - Oh,Edwin C
AU  - Vissers,Lisenka E L M
AU  - Swinkels,Mariëlle E M
AU  - Gilissen,Christian
AU  - Willemsen,Michèl A
AU  - Holvoet,Maureen
AU  - Steehouwer,Marloes
AU  - Veltman,Joris A
AU  - de Vries,Bert B A
AU  - van Bokhoven,Hans
AU  - de Brouwer,Arjan P M
AU  - Katsanis,Nicholas
AU  - Devriendt,Koenraad
AU  - Brunner,Han G
TI  - Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
SN  - 1537-6605
PY  - 2013///0214
KW  - Amino Acid Sequence
KW  - Animals
KW  - Base Sequence
KW  - Facies
KW  - Humans
KW  - Intellectual Disability
KW  - diagnosis
KW  - Male
KW  - Mutation
KW  - Neural Crest
KW  - embryology
KW  - Syndrome
KW  - Vesicular Transport Proteins
KW  - genetics
KW  - Zebrafish
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2012.10.013
ER  -