TY  - GEN
AU  - Hiraide,Takuya
AU  - Nakashima,Mitsuko
AU  - Yamoto,Kaori
AU  - Fukuda,Tokiko
AU  - Kato,Mitsuhiro
AU  - Ikeda,Hiroko
AU  - Sugie,Yoko
AU  - Aoto,Kazushi
AU  - Kaname,Tadashi
AU  - Nakabayashi,Kazuhiko
AU  - Ogata,Tsutomu
AU  - Matsumoto,Naomichi
AU  - Saitsu,Hirotomo
TI  - De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism
SN  - 1432-1203
PY  - 2019///0415
KW  - Amino Acid Sequence
KW  - Asian People
KW  - genetics
KW  - Autistic Disorder
KW  - diagnosis
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 12
KW  - Craniofacial Abnormalities
KW  - Developmental Disabilities
KW  - Epilepsy
KW  - Female
KW  - Genetic Variation
KW  - Histone-Lysine N-Methyltransferase
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Exome Sequencing
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s00439-017-1863-y
ER  -