Total: 1 |
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PMID (PMCID) | ||
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10654325 |
MALE | |
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. | ||
Salerno A, Kohlhase J, Kaplan BS. Pediatr Nephrol. 2000;14(1):25-8. |
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Features were imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, and progressive chronic renal failure. |