共 50 条
- [4] Phenotypic variability of the cat eye syndrome. Case report and review of the literature GENETIC COUNSELING, 2001, 12 (03): : 273 - 282
- [5] Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review NEUROHOSPITALIST, 2019, 9 (01): : 30 - 36
- [8] Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature CLINICAL CASE REPORTS, 2024, 12 (01):