Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

Acrodysostosis is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and neurological abnormalities. To identify the molecular basis of acrodysostosis, we performed exome sequencing on five genetically independent cases. Three different missense mutations in PDE4D, wh...

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Main Authors: Lee, Hane, Graham, John M., Rimoin, David L., Lachman, Ralph S., Krejci, Pavel, Tompson, Stuart W., Nelson, Stanley F., Krakow, Deborah, Cohn, Daniel H.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2012
Teme:
Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3322224/
https://ncbi.nlm.nih.gov/pubmed/22464252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.03.004
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