Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3
This study present the first report of Chinese children carrying compound heterozygous genetic variants in <i>ASCC3</i> with LOF variants, elucidating the relationship between these variants and various aspects of intellectual disability. This novel finding expands the existing spectrum of <i>ASCC3</i> variations.
Authors
- Z. Li
- Taisong Li
- Xilong Du (ORCID: https://orcid.org/0000-0001-9152-5344)
- Xiaona Wang (ORCID: https://orcid.org/0000-0001-8710-1688)
- Xiaotian Li (ORCID: https://orcid.org/0000-0002-2051-4581)
- Kaili Xu (ORCID: https://orcid.org/0000-0001-7988-7369)
- Daoqi Mei (ORCID: https://orcid.org/0000-0003-3293-3844)
- Junhui Fu
Institutions
- Zhengzhou University (CN)
- Zhengzhou Children's Hospital (CN)
- Weifang Maternity and Child Care Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-09-02
- DOI
- https://doi.org/10.3389/fgene.2024.1382275
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55