The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability
Molecular genetic testing in craniosynostosis leads to the detection of the mutations in the genes encoding fibroblast growth factor receptors (FGFR), providing information about the etiology of the genetic disorder. Muenke syndrome is produced by p.Pro250Arg mutation in FGFR3 gene with evidence of...
Main Authors: | , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Sciendo
2018-10-01
|
Series: | Romanian Journal of Laboratory Medicine |
Subjects: | |
Online Access: | https://doi.org/10.2478/rrlm-2018-0033 |