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Summary

Description
English: Boy with Okamoto syndrome (Au–Kline syndrome), caused by a mutation in HNRNPK
Date
Source Lange, L., Pagnamenta, A.T., Lise, S., Clasper, S., Stewart, H., Akha, E.S., Quaghebeur, G., Knight, S.J.L., Keays, D.A., Taylor, J.C. and Kini, U. (2016), A de novo frameshift in HNRNPK causing a Kabuki‐like syndrome with nodular heterotopia. Clin Genet, 90: 258-262. doi:10.1111/cge.12773
Author Lange, L., Pagnamenta, A.T., Lise, S., Clasper, S., Stewart, H., Akha, E.S., Quaghebeur, G., Knight, S.J.L., Keays, D.A., Taylor, J.C. and Kini, U.

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8 March 2016

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