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Case Report

A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene

Won Ik Choi, Ji Hye Kim, Han Wook Yoo, Sung Hee Oh

Clin Exp Pediatr. 2010;53(12):1018-1021. Published online December 31, 2010

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis...

DOI: https://doi.org/10.3345/kjp.2010.53.12.1018

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