Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.

Elke M. Botzenhart*, Gabriella Bartalini, Edward Blair, Angela F. Brady, Frances Elmslie, Karen L. Chong, Katie Christy, Wilfredo Torres-Martinez, Cesare Danesino, Matthew A. Deardorff, Jean Pierre Fryns, Sandrine Marlin, Sixto Garcia-Minaur, Yorck Hellenbroich, Beverly N. Hay, Maila Penttinen, Vandana Shashi, Paulien Terhal, Lionel Van Maldergem, Margo L. WhitefordElaine Zackai, J├╝rgen Kohlhase

*Corresponding author for this work
35 Citations (Scopus)

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Medicine & Life Sciences