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Novel DCX pathogenic variant in a girl with subcortical band heterotopia Cover

Novel DCX pathogenic variant in a girl with subcortical band heterotopia

Revista Romana de Medicina de Laborator
Volume 30 (2022): Issue 3 (July 2022)
By: Sorina Mihaela Papuc,  Magdalena Budisteanu,  Alina Erbescu,  Virgil Ionescu,  Catrinel Iliescu,  Carmen Sandu and  Aurora Arghir  
Open Access
|Jul 2022

Authors

Sorina Mihaela Papuc

ela_papuc@yahoo.com

Medical Genetics Laboratory, Victor Babes National Institute of Pathology, Romania

Magdalena Budisteanu

Department of Pediatric Neurology, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Romania
Department of Genetics, Faculty of Medicine, Titu Maiorescu University, Bucharest, Romania

Alina Erbescu

Medical Genetics Laboratory, Victor Babes National Institute of Pathology, Romania

Virgil Ionescu

Radiology and Medical Imaging Department, Monza Metropolitan Hospital, Bucharest, Romania

Catrinel Iliescu

Department of Pediatric Neurology, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Romania
Pediatric Neurology Discipline, Carol Davila University of Medicine and Pharmacy, Romania

Carmen Sandu

Department of Pediatric Neurology, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Romania

Aurora Arghir

Medical Genetics Laboratory, Victor Babes National Institute of Pathology, Romania
DOI: https://doi.org/10.2478/rrlm-2022-0031 | Journal eISSN: 2284-5623 | Journal ISSN: 1841-6624
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Language: English
Page range: 345 - 352
Submitted on: Dec 10, 2021
Accepted on: Jun 22, 2022
Published on: Jul 18, 2022
Published by: Romanian Association of Laboratory Medicine
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year
Keywords:
Sanger sequencing,
seizures,
band heterotopia,
brain magnetic resonance,
abnormal cortical development
Related subjects:
Life sciences,
Molecular biology,
Biochemistry,
Human biology,
Microbiology and virology

© 2022 Sorina Mihaela Papuc, Magdalena Budisteanu, Alina Erbescu, Virgil Ionescu, Catrinel Iliescu, Carmen Sandu, Aurora Arghir, published by Romanian Association of Laboratory Medicine
This work is licensed under the Creative Commons Attribution 4.0 License.

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