Article
A<i>SALL1 </i>mutation causes a branchio-oto-renal syndrome-like phenotype: Figure 1
1 Jun 2000
Abstract excerpt
Editor—The Townes-Brocks syndrome (TBS, MIM 107480) is an autosomal dominantly inherited association of imperforate anus, supernumerary/triphalangeal thumbs, and dysplastic ears. In addition to this, sensorineural or conductive hearing loss, renal malformations, cardiac defects, and mental retardation maybe present in affected subjects. TBS is caused by mutations of the putative zinc finger transcription factor...
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