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Similar articles for PMID: 11826030

106 results

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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.
Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W. Kohlhase J, et al. J Med Genet. 2003 Jul;40(7):473-8. doi: 10.1136/jmg.40.7.473. J Med Genet. 2003. PMID: 12843316 Free PMC article.
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. Kohlhase J, et al. Hum Mol Genet. 2002 Nov 1;11(23):2979-87. doi: 10.1093/hmg/11.23.2979. Hum Mol Genet. 2002. PMID: 12393809
Papillorenal ("renal coloboma") syndrome.
Parsa CF, Goldberg MF, Hunter DG. Parsa CF, et al. Am J Ophthalmol. 2002 Aug;134(2):300-1; author reply 301. doi: 10.1016/s0002-9394(02)01533-7. Am J Ophthalmol. 2002. PMID: 12140054 No abstract available.
The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney.
Favor J, Sandulache R, Neuhäuser-Klaus A, Pretsch W, Chatterjee B, Senft E, Wurst W, Blanquet V, Grimes P, Spörle R, Schughart K. Favor J, et al. Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13870-5. doi: 10.1073/pnas.93.24.13870. Proc Natl Acad Sci U S A. 1996. PMID: 8943028 Free PMC article.
106 results