Exome Sequencing Identifies PDE4D mutations in Acrodysostosis

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Authors

LEE Hane GRAHAM J.M. RIMOIN D.L. LACHMAN R.S. KREJČÍ Pavel TOMPSON S.W. NELSON S.F. KRAKOW D. COHN D.H.

Year of publication 2012
Type Article in Periodical
Magazine / Source The American Journal of Human Genetics
MU Faculty or unit

Faculty of Science

Citation
Doi http://dx.doi.org/10.1016/j.ajhg.2012.03.004
Field Physiology
Keywords exome; PDE4D; Acrodysostosis
Description Acrodysostosis is a dominantly inherited disorder. To identify the molecular basis od acrodysostosis we performed exome sequencing on five gnetically independent cases. Three different missense mutations in PDE4D, which endoced cyclic AMP specific phospodiesterases 4D were found to be heterozygous in three of cases.
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