Article
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
Human mutation - 1 Sept 2005
Botzenhart Elke M, Green Andrew, Ilyina Helena, König Rainer, Lowry R Brian, Lo Ivan F M, Shohat Mordechai, Burke Leah, McGaughran Julie, Chafai Ronit, Pierquin Geneviève, Michaelis Ron C, Whiteford Margo L, Simola Kalle O J, Rösler Bernd, Kohlhase Jürgen
Abstract excerpt
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...
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