Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening
| Authors | Lin Peng, Liu Huituan, Lou Jiwu, Lyu Guizhen, Li Yanwei, He Peiqing, Fu Youqing, Zhang Ronghua, Zhang Yuqiong, Yan Tizhen |
|---|---|
| Journal | Pharmacogenomics and Personalized Medicine |
| Publication Date | 2025-04-00 |
| DOI | 10.2147/pgpm.s492647 |