Case report identifies a novel HUWE1 gene mutation associated with developmental delay and syndrome phenotype in a female infant, suggesting potential genetic insights.
Key Points
A novel variant of the huwe1 gene was identified in a female infant, linked to significant neurodevelopmental deficits.
Clinical features included abnormal facial features, hypotonia, and brachydactyly, supporting the syndrome phenotype.
Identification of this mutation highlights the varying expressions of huwe1 mutations in females compared to males.
This rare case raises awareness of the impact of huwe1 gene mutations on cognitive development in female patients.
Cite This Study
Giannikopoulou et al. (2025) studied this question.