SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

@article{Botzenhart2005SALL1MA,
  title={SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.},
  author={Elke M Botzenhart and Andrew Green and Helena Ilyina and Rainer Koenig and Robert Brian Lowry and Ivan Fai-man Lo and Mordechai Shohat and Leah Burke and Julie M McGaughran and Ronit Chafai and Genevi{\`e}ve Pierquin and Ron C. Michaelis and Margo Whiteford and Kalle O.J. Simola and Bernd Roesler and Juergen Kohlhase},
  journal={Human mutation},
  year={2005},
  volume={26 3},
  pages={282}
}
Townes-Brocks syndrome is an autosomal dominantly inherited disorder, which comprises multiple birth defects including renal, ear, anal, and limb malformations. TBS has been shown to result from mutations in SALL1, a human gene related to the developmental regulator SAL of Drosophila melanogaster. The SALL1 gene product is a zinc finger protein thought to act as a transcription factor. It contains four highly conserved, evenly distributed C2H2 double zinc finger domains. A single C2H2 motif is… CONTINUE READING

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