Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration.
Kozawa
M
M
Kondo
H
H
Tahira
T
T
Hayashi
K
K
Uchio
E
E
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*
D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors