Article
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Human mutation - 1 Feb 2007
Botzenhart Elke M, Bartalini Gabriella, Blair Edward, Brady Angela F, Elmslie Frances, Chong Karen L, Christy Katie, Torres-Martinez Wilfredo, Danesino Cesare, Deardorff Matthew A, Fryns Jean-Pierre, Marlin Sandrine, Garcia-Minaur Sixto, Hellenbroich Yorck, Hay Beverly N, Penttinen Maila, Shashi Vandana, Terhal Paulien, Van Maldergem Lionel, Whiteford Margo L, Zackai Elaine, Kohlhase Jürgen
Abstract excerpt
Townes-Brocks syndrome (TBS) is an autosomal dominant malformation syndrome characterized by renal, anal, ear, and thumb anomalies caused by SALL1 mutations. To date, 36 SALL1 mutations have been described in TBS patients. All but three of those, namely p.R276X, p.S372X, and c.1404dupG, have been found only in single families thereby preventing phenotype-genotype correlations. Here we present 20 novel mutations...
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