title: Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.
authors.affiliation: Department of Genetics and Cell Biology, University Maastricht, Maastricht, The Netherlands. liesbeth.spruijt@freeler.nl
authors.forename: L
authors.initials: L
authors.lastname: Spruijt
authors.forename: L H
authors.initials: LH
authors.lastname: Hoefsloot
authors.forename: G H W H
authors.initials: GH
authors.lastname: van Schaijk
authors.forename: D
authors.initials: D
authors.lastname: van Waardenburg
authors.forename: B
authors.initials: B
authors.lastname: Kremer
authors.forename: H J L
authors.initials: HJ
authors.lastname: Brackel
authors.forename: C E M
authors.initials: CE
authors.lastname: de Die-Smulders
mesh_terms: D004252:DNA Mutational Analysis; D005660:Funnel Chest / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007818:Laryngeal Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D063173:Retrognathia / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases