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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Autors principals:	Nikoletta Nagy, Margit Pál, Dóra Nagy, Barbara Anna Bokor, Aliz Zimmermann, Balázs Gellén, András Salamon, László Sztriha, Péter Klivényi, Márta Széll
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-01-01
Col·lecció:	BMC Pediatrics
Matèries:	CTNNB1 Neurodevelopmental disorder High-throughput Truncating Whole exome sequencing
Accés en línia:	https://doi.org/10.1186/s12887-023-04509-w
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