Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report
We present a rare case of <i>LSS</i>-related hypotrichosis with strabismus and a novel c.386G>A variant has not been reported, which broadens the understanding of <i>LSS</i> gene variants and their phenotypic spectrum, enhancing insights into the genotype-phenotype relationship in <i>LSS</i>-related conditions.
Authors
- Zhicao Yue (ORCID: https://orcid.org/0000-0001-5729-3842)
- Linlin Bao (ORCID: https://orcid.org/0000-0003-4869-3777)
- Fang Yang (ORCID: https://orcid.org/0000-0003-4390-677X)
- Qian Li (ORCID: https://orcid.org/0009-0008-1104-1816)
Institutions
- Chinese PLA General Hospital (CN)
- Southern University of Science and Technology (CN)
- ShenZhen People’s Hospital (CN)
- Southern Medical University Shenzhen Hospital (CN)
- Shenzhen University Health Science Center (CN)
- Shenzhen Second People's Hospital (CN)
- Shenzhen Third People’s Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-04-29
- DOI
- https://doi.org/10.3389/fped.2025.1512646
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00