A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia
Our objective was to identify the potential site of <i>HECW2</i>, combined with the literature review, to find the correlation between clinical phenotype and genotype.
Authors
- Lan Zeng (ORCID: https://orcid.org/0000-0001-9030-3678)
- Shuyao Zhu (ORCID: https://orcid.org/0000-0003-2169-8340)
- Jin Wang (ORCID: https://orcid.org/0000-0003-4961-6618)
- Jing Nie
- Hui Zhu
- Yingping Deng (ORCID: https://orcid.org/0000-0001-7653-658X)
- Xueyan Wang (ORCID: https://orcid.org/0009-0000-9975-7465)
- Na Xi
Institutions
- Chengdu Women's and Children's Central Hospital (CN)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-04-17
- DOI
- https://doi.org/10.1159/000545680
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00