IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TWIST1
Definition : Molecular assay reagents intended to identify mutations in the twist homologue 1 (TWIST1) gene, located at chromosome 7p21.2, which encodes for a probable transcription factor that may be involved in the negative regulation of cellular determination and in the differentiation of several lineages including myogenesis, osteogenesis, and neurogenesis. This inherited genetic mutation has been identified in patients with acrocephalosyndactyly type III syndrome (also known as Chotzen's or Saethre-Chotzen syndrome); it is also associated with craniosynostosis combined with radial aplasia (Baller-Gerold syndrome).
Entry Terms : "Baller-Gerold Syndrome Gene Mutation Reagents" , "Saethre-Chotzen Syndrome Gene Mutation Reagents" , "Acrocephalosyndactyly III Gene Mutation Reagents" , "Chotzen Syndrome Gene Mutation Reagents" , "TWIST1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, TWIST1"
UMDC code : 25002