A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder

Nagy Nikoletta and Pál Margit and Nagy Dóra and Bokor Barbara Anna and Zimmermann Aliz and Gellén Balázs and Salamon András and Sztriha László and Klivényi Péter and Széll Márta: A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
BMC PEDIATRICS, 24 (1). ISSN 1471-2431 (2024)

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Creators:
Nagy Nikoletta MTMT
Pál Margit MTMT
Nagy Dóra MTMT
Bokor Barbara Anna MTMT
Zimmermann Aliz MTMT
Gellén Balázs MTMT
Salamon András MTMT
Sztriha László MTMT
Klivényi Péter MTMT
Széll Márta MTMT
Item Type: Journal Article
Journal or Publication Title: BMC PEDIATRICS
Date: 2024
Volume: 24
Number: 1
Number of Pages: 6
Publication identifier: 47
ISSN: 1471-2431
Faculty/Unit: Albert Szent-Györgyi Medical School
Institution: University of Szeged (2000-)
Language: English
MTMT rekordazonosító: 34505540
DOI azonosító: https://doi.org/10.1186/s12887-023-04509-w
Date Deposited: 2024. Apr. 10. 08:57
Last Modified: 2024. Apr. 10. 08:57
URI: http://publicatio.bibl.u-szeged.hu/id/eprint/30089
Web of Science® Times Cited: 1 View citing articles in Web of Science®

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