Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GLI3

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GLI3

Definition : Molecular assay reagents intended to identify mutations in the GLI-Kruppel family member 3 (GLI3) gene, located at chromosome 7p13, which is involved in the normal shaping of many tissues and organs during embryonic development. The protein made by this gene helps control gene expression. Mutations at this locus have been identified in patients with Greig cephalopolysyndactyly syndrome; they are also present in patients with Pallister-Hall syndrome (PHS).

Entry Terms : "Pallister-Hall Syndrome (PHS) Gene Mutation Detection Reagents" , "Cephalopolysyndactyly Syndrome Gene Mutation Detection Reagents" , "Greig Cephalopolysyndactyly Syndrome (GCPS) Gene Mutation Detection Reagents" , "GLI3 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GLI3"

UMDC code : 24447

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