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Balkan Journal of Medical Genetics
Édition 26 (2023): Edition 2 (December 2023)
Accès libre
EPHA4
Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay
M Sleptsova
M Sleptsova
,
C Georgiev
C Georgiev
,
S Atemin
S Atemin
,
P Dimova
P Dimova
,
D Avdjieva-Tzavella
D Avdjieva-Tzavella
,
G Tacheva
G Tacheva
,
I Litvinenko
I Litvinenko
,
L Grozdanova
L Grozdanova
,
T Todorov
T Todorov
,
V Mitev
V Mitev
et
A Todorova
A Todorova
| 12 mars 2024
Balkan Journal of Medical Genetics
Édition 26 (2023): Edition 2 (December 2023)
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Article Category:
Case Report
Publié en ligne:
12 mars 2024
Pages:
65 - 68
DOI:
https://doi.org/10.2478/bjmg-2023-0019
Mots clés
Whole Exome Sequencing
,
Epilepsy
,
Novel genetic variant
,
Ophthalmological Anomalies
,
Neurodevelopmental Delay
© 2023 M Sleptsova et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
M Sleptsova
Genetic Medico-Diagnostic Laboratory “Genica”,
Sofia, Bulgaria
Department of Medical Chemistry and Biochemistry, Medical University Sofia
Sofia, Bulgaria
C Georgiev
ULB Neuroscience Institute Université libre de Bruxelles (ULB)
Brussels, Belgium
S Atemin
Genetic Medico-Diagnostic Laboratory “Genica”,
Sofia, Bulgaria
P Dimova
St. Ivan Rilski University Hospital,
Sofia, Bulgaria
D Avdjieva-Tzavella
Department of Clinical Genetics, University Pediatric Hospital
Sofia, Bulgaria
G Tacheva
Department of Pediatrics, Medical University of Sofia
Sofia, Bulgaria
Specialized Hospital for Active Treatment of Children’s Diseases “prof. Ivan Mitev”
Sofia, Bulgaria
I Litvinenko
Department of Pediatrics, Medical University of Sofia
Sofia, Bulgaria
Specialized Hospital for Active Treatment of Children’s Diseases “prof. Ivan Mitev”
Sofia, Bulgaria
L Grozdanova
Genetic Medico-Diagnostic Laboratory “Genica”,
Sofia, Bulgaria
T Todorov
Genetic Medico-Diagnostic Laboratory “Genica”,
Sofia, Bulgaria
V Mitev
Department of Medical Chemistry and Biochemistry, Medical University Sofia
Sofia, Bulgaria
A Todorova
Genetic Medico-Diagnostic Laboratory “Genica”,
Sofia, Bulgaria
Department of Medical Chemistry and Biochemistry, Medical University Sofia
Sofia, Bulgaria