A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

Source:http://linkedlifedata.com/resource/pubmed/id/20015959

Hum. Mol. Genet. 2010 Mar 1 19 5 848-60

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PMID
20015959