Yan Cong Hongxing Jin Ke Wu Hao Wang Dong Wang
10.3389/fgene.2022.900226
Front Genet
2022 Aug 15;13:900226.
coffin–lowry syndrome rps6ka3 c898c>t mutation intellectual disability loss-of-function menstrual disorder whole-exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/36046249/
Case Reports
PMC9420874
36046249
Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion
2022