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Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.
J Kohlhase, L Schubert, M Liebers, A Rauch, K Becker, S N Mohammed, R Newbury-Ecob, W Reardon
J Med Genet 2003; 40(7):473-478
ICID: 751763
IC™ Value: 2.00
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