Literature DB >> 17351307

Townes-Brocks syndrome with hypothyroidism.

Vivek Goswami1, N K Dubey.   

Abstract

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Hypothyroidism is not a recognized feature of TBS. We are reporting a case of TBS with hypothyroidism, a rare association.

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Year:  2007        PMID: 17351307

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN: 0019-6061            Impact factor:   1.411


  2 in total

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

Authors:  Won Ik Choi; Ji Hye Kim; Han Wook Yoo; Sung Hee Oh
Journal:  Korean J Pediatr       Date:  2010-12-31

2.  Endocrine abnormalities in Townes-Brocks syndrome.

Authors:  Cara Lawrence; Irene Hong-McAtee; Bryan Hall; James Hartsfield; Andrew Rutherford; Tracy Bonilla; Carolyn Bay
Journal:  Am J Med Genet A       Date:  2013-07-25       Impact factor: 2.802

  2 in total

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