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Revista Romana de Medicina de Laborator
Volume 30 (2022): Issue 3 (July 2022)
Open Access
Novel DCX pathogenic variant in a girl with subcortical band heterotopia
Sorina Mihaela Papuc
Sorina Mihaela Papuc
,
Magdalena Budisteanu
Magdalena Budisteanu
,
Alina Erbescu
Alina Erbescu
,
Virgil Ionescu
Virgil Ionescu
,
Catrinel Iliescu
Catrinel Iliescu
,
Carmen Sandu
Carmen Sandu
and
Aurora Arghir
Aurora Arghir
| Jul 18, 2022
Revista Romana de Medicina de Laborator
Volume 30 (2022): Issue 3 (July 2022)
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Published Online:
Jul 18, 2022
Page range:
345 - 352
Received:
Dec 10, 2021
Accepted:
Jun 22, 2022
DOI:
https://doi.org/10.2478/rrlm-2022-0031
Keywords
Sanger sequencing
,
seizures
,
band heterotopia
,
brain magnetic resonance
,
abnormal cortical development
© 2022 Sorina Mihaela Papuc et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
Sorina Mihaela Papuc
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