We report a novel heterozygous missense mutation , H194Q , in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function , possibly through stabilization of the protein dimer DNA complex .
O O O O O O O O B-SequenceVariant O O O O O O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O O O O O O O O O O O O O O O O O O O O O O O O O O O