Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene
Summary
This study expands the mutation spectrum of AHDS and has clinical value for variant-based prenatal and postnatal screening for this condition. Doctors often have difficulty identifying AHDS by using clinical symptoms. WES can help to identify specific disorder when diagnosis cannot be made based on symptoms alone. © 2022 Zhang, Yang, Zhou, Qin, Yi and Luo.
| Authors | Zhang Q, Yang Q, Zhou X, Qin Z, Yi S, Luo J |
|---|---|
| Journal | Frontiers in pediatrics |
| Publication Date | 2022;10:1050023 |
| PubMed | 36458135 |
| PubMed Central | PMC9705582 |
| DOI | 10.3389/fped.2022.1050023 |