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Journal article
J Med Genet
08/2004
41
Abnormalities, Multiple, Alternative Splicing, Craniofacial Dysostosis, Craniosynostoses, DNA Mutational Analysis, Exons, Female, Gene Expression Regulation, Genetic Testing, Humans, Male, Mutation, Pedigree, RNA Splice Sites, Receptor Protein-Tyrosine Kinases, Receptor, Fibroblast Growth Factor, Type 2, Receptors, Fibroblast Growth Factor, Syndrome