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

• Main Authors: Nikoletta Nagy (Author), Margit Pál (Author), Dóra Nagy (Author), Barbara Anna Bokor (Author), Aliz Zimmermann (Author), Balázs Gellén (Author), András Salamon (Author), László Sztriha (Author), Péter Klivényi (Author), Márta Széll (Author)
• Format: Knjiga
• Izdano: BMC, 2024-01-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

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...