title: Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.
authors.affiliation: Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
authors.forename: Denny
authors.initials: D
authors.lastname: Schanze
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
authors.forename: Bilge N
authors.initials: BN
authors.lastname: Satkın
authors.forename: Umut
authors.initials: U
authors.lastname: Altunoglu
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
mesh_terms: D037881:Aborted Fetus; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D019066:Facies; D005190:Family; D005260:Female; D058497:Fraser Syndrome / Q000175:diagnosis* / Q000235:genetics*; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; C491310:GRIP1 protein, human; D009419:Nerve Tissue Proteins