A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.
S
S
Engels
J
J
Kohlhase
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J
McGaughran
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
C104146:SALL1 protein, human; D014157:Transcription Factors