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Article

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

BMC pediatrics - 15 Jan 2024

Nagy Nikoletta, Pál Margit, Nagy Dóra, Bokor Barbara Anna, Zimmermann Aliz, Gellén Balázs, Salamon András, Sztriha László, Klivényi Péter, Széll Márta

Abstract excerpt

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 dizziness, strabismus, hypermetropia, complex movement disorder and partial pituitary dysfunction. After years of detailed...

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Identifiers

PMID: 38225558
DOI: 10.1186/s12887-023-04509-w
PMCID: PMC10789033

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