Genetic analysis of patients with the Saethre-Chotzen phenotype. [electronic resource]
Producer: 20020920Description: 136-43 p. digitalISSN:- 0148-7299
- Acrocephalosyndactylia -- genetics
- Child, Preschool
- DNA -- chemistry
- DNA Mutational Analysis
- Family Health
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Karyotyping
- Male
- Mutation, Missense
- Nuclear Proteins
- Pedigree
- Phenotype
- Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 3
- Receptors, Fibroblast Growth Factor -- genetics
- Transcription Factors -- genetics
- Twist-Related Protein 1
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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