A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.
Maass PG; Wirth J; Aydin A; Rump A; Stricker S; Tinschert S; Otero M; Tsuchimochi K; Goldring MB; Luft FC; Bähring S; Human Molecular Genetics, 2010, vol. 19, issue 5, p 848, ISSN 14602083. ISBN 14602083.

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