TY  - GEN
AU  - Jansen,S
AU  - Kleefstra,T
AU  - Willemsen,M H
AU  - de Vries,P
AU  - Pfundt,R
AU  - Hehir-Kwa,J Y
AU  - Gilissen,C
AU  - Veltman,J A
AU  - de Vries,B B A
AU  - Vissers,L E L M
TI  - De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum
SN  - 1399-0004
PY  - 2017///0630
KW  - Adolescent
KW  - Cell Cycle Proteins
KW  - genetics
KW  - Chromosomal Proteins, Non-Histone
KW  - De Lange Syndrome
KW  - Drug Resistance
KW  - Epilepsy
KW  - drug therapy
KW  - Exons
KW  - Female
KW  - Genes, X-Linked
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Middle Aged
KW  - Phenotype
KW  - RNA, Messenger
KW  - Sequence Deletion
KW  - Structural Maintenance of Chromosome Protein 1
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/cge.12729
ER  -