The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability

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...

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Bibliographic Details
Main Authors: Bogliş Alina, Tripon Florin, Bănescu Claudia
Format: Article
Language:English
Published: Sciendo 2018-10-01
Series:Romanian Journal of Laboratory Medicine
Subjects:
craniosynostosis
fgfr3
pro250arg mutation
mlpa analysis
sanger sequencing
Online Access:https://doi.org/10.2478/rrlm-2018-0033

Internet

https://doi.org/10.2478/rrlm-2018-0033

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