De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
Jansen, S
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] - Clinical genetics 11 2016 - 413-419 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1399-0004
10.1111/cge.12729 doi
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
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] - Clinical genetics 11 2016 - 413-419 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1399-0004
10.1111/cge.12729 doi
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