Article
Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree.
Journal of clinical laboratory analysis - 1 Jan 2006
Cheng Baowen, Dong Yongli, He Li, Tang Wenru, Yu Haijing, Lu Jing, Xu Lin, Zheng Bingrong, Li Kaiyuan, Xiao Chunjie
Abstract excerpt
Polydactyly is one of the most common forms of congenital malformation in humans, and is displayed by 119 disorders. Crossed polydactyly (CP) is defined as the coexistence of preaxial and postaxial polydactyly with a difference in the axes of polydactyly between the hands and feet. In an effort to map the gene responsible for CP, we studied a seven-generation Chinese family of 56 individuals, 28 of whom were...
Topics
- Asian People
- Chromosomes, Human, Pair 7
- DNA Mutational Analysis
- Female
- Fingers
- Genetic Linkage
- Genetic Markers
- Humans
- Kruppel-Like Transcription Factors
- Male
- Nerve Tissue Proteins
- Pedigree
- Phenotype