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Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X. Zhao X, et al. Am J Hum Genet. 2007 Feb;80(2):361-71. doi: 10.1086/511387. Epub 2007 Jan 3. Am J Hum Genet. 2007. PMID: 17236141 Free PMC article.
We describe two large Han Chinese families with different limb malformations, one with syndactyly type V and the other with limb features overlapping brachydactyly types A4, D, and E and mild syndactyly of toes 2 and 3. Two-point linkage analysis showed LOD scores >3 (t …
We describe two large Han Chinese families with different limb malformations, one with syndactyly type V and the other with limb features ov …
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.
Dauwerse JG, de Vries BB, Wouters CH, Bakker E, Rappold G, Mortier GR, Breuning MH, Peters DJ. Dauwerse JG, et al. Eur J Hum Genet. 2007 Jul;15(7):743-51. doi: 10.1038/sj.ejhg.5201833. Epub 2007 Apr 18. Eur J Hum Genet. 2007. PMID: 17440500
Here, we report a patient with a novel brachydactyly-syndactyly syndrome and a de novo translocation 46,XY,t(4;6)(q12;p23). ...Identification of the transferred acyl group and the target may reveal the signaling pathways altered in this novel brachydactyly …
Here, we report a patient with a novel brachydactyly-syndactyly syndrome and a de novo translocation 46,XY,t(4;6)(q12;p …