title: Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration.
authors.forename: M
authors.initials: M
authors.lastname: Kozawa
authors.forename: H
authors.initials: H
authors.lastname: Kondo
authors.forename: T
authors.initials: T
authors.lastname: Tahira
authors.forename: K
authors.initials: K
authors.lastname: Hayashi
authors.forename: E
authors.initials: E
authors.lastname: Uchio
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000209:etiology*; D008875:Middle Aged; D009154:Mutation; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D041623:Tomography, Optical Coherence; D014849:Waardenburg Syndrome / Q000150:complications* / Q000235:genetics*
chemical_list: D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors