Case Report: A case of Fraser syndrome 2 in a Chinese fetus caused by novel compound heterozygous variants in the FREM2 gene
We report a rare case of Fraser syndrome 2 caused by compound heterozygous mutations in the FREM2 gene. Our findings expanded the <i>FREM2</i> genotypic spectrum and demonstrated the significance of Trio-WES in the prenatal diagnosis of recessive disorders.
Authors
- Jie‐Yuan Jin (ORCID: https://orcid.org/0000-0003-3140-2216)
- Jiaqi Song
- Sinan Zhang (ORCID: https://orcid.org/0000-0002-3894-5080)
- Hua Yuan (ORCID: https://orcid.org/0000-0002-5855-2196)
- Fan Yang (ORCID: https://orcid.org/0000-0003-3106-7593)
- Tao Zhang (ORCID: https://orcid.org/0000-0002-1229-9121)
- Weidong Wei (ORCID: https://orcid.org/0000-0001-7511-7252)
- Xin Jin (ORCID: https://orcid.org/0000-0001-9698-6422)
- Yulie Lou
Institutions
- Second Military Medical University (CN)
- Shaoxing University (CN)
- Shaoxing City Women and Children Hospital (CN)
- Changhai Hospital (CN)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-12-04
- DOI
- https://doi.org/10.3389/fmed.2025.1705708
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00