A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.
Maass, Philipp G.; Wirth, Jutta; Aydin, Atakan; Rump, Andreas; Stricker, Sigmar; Tinschert, Sigrid; Otero, Miguel; Tsuchimochi, Kaneyuki; Goldring, Mary B.; Luft, Friedrich C.; Bähring, Sylvia; Human Molecular Genetics, 2010, vol. 19, issue 5, p 848, ISSN 09646906. ISBN 14602083.

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