https://pubmed.ncbi.nlm.nih.gov/8673085/
Five folate-sensitive fragile sites have been characterized at the molecular level (FRAXA, FRAXE, FRAXF, FRA16A and FRA11B). Three of them (FRAXA, FRAXE and...
the genemental retardationidentificationassociated
https://pubmed.ncbi.nlm.nih.gov/35598272/
The exon11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) mutation in DYRK1A gene was the genetic etiology of the case, which enriches the pathogenic gene spectrum...
genetic analysismental retardationclinicalchild