Phenotype-genotype correlation in a cohort of 15 patients with hereditary ichthyosis
This study establishes a clear molecular diagnosis for the enrolled ichthyosis patients. The findings expand the known variant spectrum of hereditary ichthyosis, providing a solid basis for genetic counseling and valuable insights for future reproductive planning in these families.
Authors
- Yujie Ma
- J M Liu
- Hua-ying Hu
- Tianying Wei
- Jing Li
- Kai Yang
- Yang Liu
- Jing Zhang
Institutions
- Chinese PLA General Hospital (CN)
- Hospital of Hebei Province (CN)
- Second Hospital of Shandong University (CN)
- Beijing Hospital (CN)
- Hebei Science and Technology Department (CN)
Publication Details
- Journal
- Clinica Chimica Acta
- Published
- 2026-01-15
- DOI
- https://doi.org/10.1016/j.cca.2026.120844
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00