title: Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.
authors.affiliation: Departments of aObstetrics and Gynecology bPediatrics cPathology, University of Szeged, Szeged, Hungary.
authors.forename: Andrea
authors.initials: A
authors.lastname: Surányi
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Maróti
authors.forename: Gyula
authors.initials: G
authors.lastname: Tálosi
authors.forename: Tibor
authors.initials: T
authors.lastname: Kalmár
authors.forename: László
authors.initials: L
authors.lastname: Kaiser
authors.forename: Csaba
authors.initials: C
authors.lastname: Bereczki
authors.forename: Attila
authors.initials: A
authors.lastname: Pál
authors.forename: Attila
authors.initials: A
authors.lastname: Keresztúri
mesh_terms: D058747:CHARGE Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014057:Tomography, X-Ray Computed
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human