A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.

Xiaodan ChenLi LiuChunhua Zeng

Published in: BMC pediatrics (2022)

This study reported the first case of AHDS treated by Triac in China. And the study expanded the mutational spectrum of the SLC16A2 gene in AHDS patients.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
peritoneal dialysis
genome wide
patient reported outcomes
copy number
transcription factor
patient reported