> Reagents, Molecular Assay, Gene Anomaly, Mutation, FGFR1
Reagents, Molecular Assay, Gene Anomaly, Mutation, FGFR1
Definition : Molecular assay reagents intended to identify mutations in the fibroblast growth factor receptor 1 (FGFR1) gene, located at chromosome 8p11.2-p11.1, which encodes for a basic fibroblast growth factor receptor. Mutations at this locus have been identified in patients with hereditary defects in the normal ossification of fetal cranial cartilages (craniofacial dysostosis) and are associated with the three types of Pfeiffer's syndromes (i.e., variants 1, 2, and 3); they are also the cause of Kallmann's syndrome 2 (KAL2) and may be associated with Jackson-Weiss syndrome.
Entry Terms : "Jackson-Weiss Syndrome Gene Mutation Detection Reagents" , "Pfeiffer Syndrome Gene Mutation Detection Reagents" , "Familiar Craniofacial Dysostosis Gene Mutation Detection Reagents" , "FGFR1-Related Isolated Coronal Synostosis Gene Mutation Detection Reagents" , "FGFR 1-Related Craniosynostosis Gene Mutation Detection Reagents" , "Craniosynostosis Gene Mutation Detection Reagents" , "FGFR1 Gene Mutation Detection Reagents"
UMDC code : 24428
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