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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

74 Citations (Web of Science)
Original languageEnglish
Pages (from-to)612-622
JournalAmerican Journal of Human Genetics
Issue number4
Publication statusPublished - 2 Apr 2015

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