Point Mutations in Human GLI3 Cause Greig Syndrome

Greig cephalopolysyndactyly syndrome (GCPS, MIM 175700) is a rare autosomal dominant developmental disorder characterized by craniofacial abnormalities and post-axial and pre-axial polydactyly as well as syndactyly of hands and feet. Human GLI3, located on chromosome 7p13, is a candidate gene for th...

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Veröffentlicht in:	Human molecular genetics 1997-10, Vol.6 (11), p.1979-1984
Hauptverfasser:	Wild, Anja, Kalff-Suske, Martha, Vortkamp, Andrea, Bornholdt, Dorothea, Kônig, Rainer, Grzeschik, Karl-Heinz
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biological and medical sciences Chromosomes, Human, Pair 7 Craniofacial Abnormalities - genetics Diseases of the osteoarticular system DNA Mutational Analysis DNA-Binding Proteins - genetics Genome Humans Kruppel-Like Transcription Factors Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Nerve Tissue Proteins Point Mutation Polydactyly - genetics Repressor Proteins Syndactyly - genetics Syndrome Transcription Factors Xenopus Proteins Zinc Finger Protein Gli3
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