De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. [electronic resource]
Producer: 20170630Description: 413-419 p. digitalISSN:- 1399-0004
- Adolescent
- Cell Cycle Proteins -- genetics
- Chromosomal Proteins, Non-Histone -- genetics
- De Lange Syndrome -- genetics
- Drug Resistance -- genetics
- Epilepsy -- drug therapy
- Exons -- genetics
- Female
- Genes, X-Linked
- Humans
- Intellectual Disability -- genetics
- Male
- Middle Aged
- Phenotype
- RNA, Messenger -- genetics
- Sequence Deletion
- Structural Maintenance of Chromosome Protein 1
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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