DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Janson White, Juliana F. Mazzeu, Alexander Hoischen, Shalini N. Jhangiani, Tomasz Gambin, Michele Calijorne Alcino, Samantha Penney, Jorge M. Saraiva, Hanne Hove, Flemming Skovby, Hulya Kayserili, Elicia Estrella, Anneke T. Vulto-van Silfhout, Marloes Steehouwer, Donna M. Muzny, V. Reid Sutton, Richard A. Gibbs, James R. Lupski, Han G. Brunner, Bregje W. M. van BonClaudia M. B. Carvalho

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)612-622
JournalAmerican Journal of Human Genetics
Volume96
Issue number4
DOIs
Publication statusPublished - 2 Apr 2015

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