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Original publication

DOI

10.1136/jmg.2004.018507

Type

Journal article

Journal

J Med Genet

Publication Date

08/2004

Volume

41

Keywords

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