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