Article
Recurrent duplications of 17q12 associated with variable phenotypes.
American journal of medical genetics. Part A - 1 Dec 2015
Mitchell Elyse, Douglas Andrew, Kjaegaard Susanne, Callewaert Bert, Vanlander Arnaud, Janssens Sandra, Yuen Amy Lawson, Skinner Cindy, Failla Pinella, Alberti Antonino, Avola Emanuela, Fichera Marco, Kibaek Maria, Digilio Maria C, Hannibal Mark C, den Hollander Nicolette S, Bizzarri Veronica, Renieri Alessandra, Mencarelli Maria Antonietta, Fitzgerald Tomas, Piazzolla Serena, van Oudenhove Elke, Romano Corrado, Schwartz Charles, Eichler Evan E, Slavotinek Anne, Escobar Luis, Rajan Diana, Crolla John, Carter Nigel, Hodge Jennelle C, Mefford Heather C
Abstract excerpt
The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic change. In order to further define the clinical features of affected patients, detailed clinical information was collected in the largest series to date (30 patients and 2 of their siblings) through a multi-institutional...
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