HIGHLIGHTS
- who: Qiang Zhang et al. from the (UNIVERSITY) have published the Article: Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene, in the Journal: (JOURNAL)
- what: The authors report two novel frameshift variants of SLC16A2 which were revealed by whole exome sequencing (WES) in two Chinese boys.
SUMMARY
Sanger sequencing confirmation Allan-Herndon-Dudley syndrome (AHDS) was first reported by Allan in 1944. In 2004, it was confirmed that AHDS is caused by variants in the SLCI6A2 gene which is located . . .
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