Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. [electronic resource]
Producer: 20130322Description: 415-22 p. digitalISSN:- 2190-3883
- Acrocephalosyndactylia -- diagnosis
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA Copy Number Variations
- Genetic Association Studies -- methods
- Genetic Testing -- methods
- Heterozygote
- Humans
- Infant
- Kruppel-Like Transcription Factors -- genetics
- Male
- Middle Aged
- Mutation, Missense
- Nerve Tissue Proteins -- genetics
- Pallister-Hall Syndrome -- genetics
- Pedigree
- Point Mutation
- Polydactyly -- diagnosis
- Real-Time Polymerase Chain Reaction -- methods
- Thumb -- abnormalities
- Young Adult
- Zinc Finger Protein Gli3
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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