Myoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13...
Myoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13 and Deletion in the 6p21.32 Chromosomal Regions
About this item
Full title
Author / Creator
Publisher
Pakistan: College of Physicians and Surgeons Pakistan
Journal title
Language
English
Formats
Publication information
Publisher
Pakistan: College of Physicians and Surgeons Pakistan
Subjects
More information
Scope and Contents
Contents
Copy number variants have been increasing due to a rise in the availability of array comparative genomic hybridisation, which occupies an important place in diagnosis, especially in patients with epilepsy, dysmorphic findings, and intellectual disability. We detected 2q13 chromosomal duplication and 6p21.32 chromosomal deletion in a patient under f...
Alternative Titles
Full title
Myoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13 and Deletion in the 6p21.32 Chromosomal Regions
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_gale_infotracmisc_A707238322
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A707238322
Other Identifiers
ISSN
1022-386X
E-ISSN
1681-7168
DOI
10.29271/jcpsp.2022.06.808
