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

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

Abstract Purpose We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed global developmental delay, cognitive impairment, behavioral problems, short stature, intermittent headaches, recurrent dizzi...

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Bibliographic Details
Main Authors: Nikoletta Nagy, Margit Pál, Dóra Nagy, Barbara Anna Bokor, Aliz Zimmermann, Balázs Gellén, András Salamon, László Sztriha, Péter Klivényi, Márta Széll
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Pediatrics
Subjects:
CTNNB1
Neurodevelopmental disorder
High-throughput
Truncating
Whole exome sequencing
Online Access:https://doi.org/10.1186/s12887-023-04509-w

Internet

https://doi.org/10.1186/s12887-023-04509-w

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