Article
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Dixon M E, Armstrong P, Stevens D B, Bamshad M
Abstract excerpt
PURPOSE: To identify the gene causing tarsal/carpal coalition syndrome (TCC). METHODS: Individuals from three kindreds with TCC and normal hearing were used to map TCC and screen for mutations in Noggin (NOG). RESULTS: Three different missense mutations in NOG were found. Two of these mutations are identical to mutations previously reported to cause proximal symphalangism (SYM1). CONCLUSIONS: TCC is allelic to...
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