Okihiro syndrome is caused by SALL4 mutations.
Kohlhase J; Heinrich M; Schubert L; Liebers M; Kispert A; Laccone F; Turnpenny P; Winter RM; Reardon W; Human Molecular Genetics, 2002, vol. 11, issue 23, p 2979, ISSN 09646906. ISBN 09646906.

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