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Article

Myoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13 and Deletion in the 6p21.32 Chromosomal Regions.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Jun 2022

Turay Sevim, Eroz Recep, Karagun Ebru

Abstract excerpt

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 follow-up due to epilepsy, developmental retardation, dysmorphic...

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Identifiers

PMID: 35686417
DOI: 10.29271/jcpsp.2022.06.808

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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