title: Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.
authors.affiliation: Department of Paediatrics, Federico II University, Naples, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Cappuccio
authors.forename: V M
authors.initials: VM
authors.lastname: Ginocchio
authors.forename: A
authors.initials: A
authors.lastname: Maffè
authors.forename: S
authors.initials: S
authors.lastname: Ungari
authors.forename: G
authors.initials: G
authors.lastname: Andria
authors.forename: D
authors.initials: D
authors.lastname: Melis
mesh_terms: D058747:CHARGE Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D018389:Codon, Nonsense / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D022821:RNA Splice Sites; D004265:DNA Helicases; C491434:CHD7 protein, human