Recurrent duplications of 17q12 associated with variable phenotypes

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 wa...

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Veröffentlicht in:	American journal of medical genetics. Part A 2015-12, Vol.167A (12), p.3038-3045
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adolescent Child Child, Preschool Chromosome Duplication CNV Developmental Disabilities - genetics DNA Copy Number Variations duplication Face - abnormalities Female genotype phenotype Humans Infant Male Microcephaly - genetics Phenotype Young Adult
Online-Zugang:	Volltext
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