Okihiro syndrome is caused by SALL4 mutations.
Kohlhase, Jürgen; Heinrich, Marielle; Schubert, Lucia; Liebers, Manuela; Kispert, Andreas; Laccone, Franco; Turnpenny, Peter; Winter, Robin M.; Reardon, William; Human Molecular Genetics, 2002, vol. 11, issue 23, p 2979, ISSN 09646906. ISBN 09646906.

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