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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Hlavní autoři: Lee, Hane, Graham, John M., Rimoin, David L., Lachman, Ralph S., Krejci, Pavel, Tompson, Stuart W., Nelson, Stanley F., Krakow, Deborah, Cohn, Daniel H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2012
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On-line přístup: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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