The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations
Published inAmerican journal of human genetics, vol. 65, no. 3, p. 645-655
Publication date1999
Abstract
Keywords
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 7/genetics
- Codon/genetics
- DNA Mutational Analysis
- DNA-Binding Proteins/genetics/ metabolism
- Exons/genetics
- Family Health
- Female
- Genes, Dominant/ genetics
- Genotype
- Humans
- India
- Kruppel-Like Transcription Factors
- Linkage (Genetics)/genetics
- Male
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Phenotype
- Polydactyly/ genetics/physiopathology
- Polymorphism, Genetic/genetics
- Repressor Proteins
- Syndrome
- Transcription Factors/genetics/ metabolism
- Xenopus Proteins
Affiliation entities
Citation (ISO format)
RADHAKRISHNA, U. et al. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. In: American journal of human genetics, 1999, vol. 65, n° 3, p. 645–655. doi: 10.1086/302557
Main files (1)
Article
Identifiers
- PID : unige:8979
- DOI : 10.1086/302557
- PMID : 10441570
Additional URL for this publicationhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377970/pdf/10441570.pdf
Journal ISSN0002-9297