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Commonly affected anomalies are anorectal malformations (imperforate anus, anteriorly placed anus, anal stenosis), hand malformations (preaxial polydactyly, triphalangeal thumb, bifid thumb), external ear malformations (microtia, “satyr” or “lop” ear, preauricular tag or pits) with sensorineural hearing loss, and renal malformations. In addition, intellectual disability, learning problems, and cardiac anomalies have been reported in TBS [46]. Cytogenetic findings provided the first indication of the causative gene for TBS, and SALL1 was mapped to chromosome Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation