title: A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet.
authors.forename: M M
authors.initials: MM
authors.lastname: Al-Qattan
mesh_terms: D002675:Child, Preschool; D016368:Frameshift Mutation / Q000235:genetics*; D006226:Hand Deformities / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013576:Syndactyly / Q000000981:diagnostic imaging / Q000235:genetics*; D013933:Thumb / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities*; D014965:X-Rays; D000074290:Zinc Finger Protein Gli3
chemical_list: C065683:GLI3 protein, human; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; D000074290:Zinc Finger Protein Gli3