> Reagents, Molecular Assay, Gene Anomaly, Mutation, FGFR3
Reagents, Molecular Assay, Gene Anomaly, Mutation, FGFR3
Definition : Molecular assay reagents intended to identify mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, located at chromosome 4p16.3, that encodes for acidic and basic fibroblast growth factor receptors. Mutations at this locus have been identified in patients with hereditary defects in the normal ossification of fetal cranial cartilages (craniofacial dysostosis), including patients with Crouzon syndrome with acanthosis nigrican and Muenke syndrome. Mutations in this gene may cause also disorders such as achondroplasia, hypochondroplasia, and neonatal thanatophoric dwarfism.
Entry Terms : "SADDAN Dysplasia Gene Mutation Detection Reagents" , "Severe Achondroplasia with Developmental Delay and Acanthosis Nigrican (SADDAN) Gene Mutation Detect" , "Crouzon syndrome with Acanthosis Nigrican Gene Mutation Detection Reagents" , "Thanatophoric Dysplasia Gene Mutation Detection Reagents" , "FGFR 3-Related Craniosynostosis Gene Mutation Detection Reagents" , "Hypochondroplasia Gene Mutation Detection Reagents" , "Achondroplasia Gene Mutation Detection Reagents" , "FGFR3 Gene Mutation Detection Reagents"
UMDC code : 24430
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