TY  - GEN
AU  - Bekircan-Kurt,Can Ebru
AU  - Şimşek-Kiper,Pelin Özlem
AU  - Boduroğlu,Koray
AU  - Dericioğlu,Neşe
TI  - A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures
SN  - 2791-6421
PY  - 2017///0626
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - DNA-Binding Proteins
KW  - Electroencephalography
KW  - Epilepsy
KW  - drug therapy
KW  - Face
KW  - abnormalities
KW  - Hematologic Diseases
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Neoplasm Proteins
KW  - Vestibular Diseases
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.24953/turkjped.2016.01.015
ER  -