TY  - GEN
AU  - van Bon,Bregje W M
AU  - Gilissen,Christian
AU  - Grange,Dorothy K
AU  - Hennekam,Raoul C M
AU  - Kayserili,Hülya
AU  - Engels,Hartmut
AU  - Reutter,Heiko
AU  - Ostergaard,John R
AU  - Morava,Eva
AU  - Tsiakas,Konstantinos
AU  - Isidor,Bertrand
AU  - Le Merrer,Martine
AU  - Eser,Metin
AU  - Wieskamp,Nienke
AU  - de Vries,Petra
AU  - Steehouwer,Marloes
AU  - Veltman,Joris A
AU  - Robertson,Stephen P
AU  - Brunner,Han G
AU  - de Vries,Bert B A
AU  - Hoischen,Alexander
TI  - Cantú syndrome is caused by mutations in ABCC9
SN  - 1537-6605
PY  - 2012///0823
KW  - ATP-Binding Cassette Transporters
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Base Sequence
KW  - Cardiomegaly
KW  - Child
KW  - Cohort Studies
KW  - Facies
KW  - Female
KW  - Genes, Dominant
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Hypertrichosis
KW  - Infant
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - Phenotype
KW  - Potassium Channels
KW  - Potassium Channels, Inwardly Rectifying
KW  - Receptors, Drug
KW  - Sequence Analysis, DNA
KW  - Sulfonylurea Receptors
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2012.04.014
ER  -