Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.
CTNNB1 Syndrome is a neurodevelopmental disorder caused by de novo pathogenic variants characterized by global cognitive impairment, microcephaly, speech and motor delay, abnormal muscle tone, ophthalmologic impairments, behaviour problems and autistic spectrum disorder (ASD) symptoms. The aim of th...
| Publicado en: | Journal of Autism & Developmental Disorders Vol. 56; no. 9; pp. 3655 - 3670 |
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| Autores principales: | , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Springer Nature
Sep2026
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| Acceso en línea: | Ver este registro en EBSCOhost |