Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia
Copyright policy )Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia
Achondroplasia (ACH) is the most common form of skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, relative macrocephaly and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. The combined frequency of the disease has been estimated to be 1 in 15 000 live births.
- Chinese National Human Genome Center at Shanghai China (People's Republic of)
- Huazhong University of Science and Technology China (People's Republic of)
- Case Western Reserve University United States
Adult, Male, Molecular Sequence Data, Achondroplasia, Mutation, Humans, Receptor, Fibroblast Growth Factor, Type 3, Amino Acid Sequence, Polymorphism, Restriction Fragment Length, Genes, Dominant
Adult, Male, Molecular Sequence Data, Achondroplasia, Mutation, Humans, Receptor, Fibroblast Growth Factor, Type 3, Amino Acid Sequence, Polymorphism, Restriction Fragment Length, Genes, Dominant
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