Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management
扩大导致复杂性痉挛性截瘫的HACE1功能缺失变异谱：文献综述及临床管理建议
期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-026-00914-1
Yousaf, Hammad; Ali, Sajid; Moulvi, Ahad Yousuf; Khalid, Lubaba Bintee; Javed, Iram; Ghumman, Rafia Zafar; Colson, Cindy; Ibrahim, Shahnaz; Zia, Salma; Khan, Muhammad Musawer; Brunelle, Perrine; Trujillo-Quintero, Juan Pablo; Ruiz, Anna; Kirmani, Salman; Houlden, Henry; Toft, Mathias; Fatima, Ambrin; Iqbal, Zafar
