Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening

Lin P, Liu H, Lou J, Lyu G, Li Y, He P, Fu Y, Zhang R, Zhang Y, Yan T

Pharmacogenomics and Personalized Medicine 2025, 18:85-94

Published Date: 23 April 2025