Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference15 articles.
1. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autisme-susceptibility gene;Alarcon;Am J Hum Genet,2008
2. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism;Arking;Am J Hum Genet,2008
3. Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome;Belloso;Eur J Hum Genet,2007
4. Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome;Bisgaard;Am J Med Genet Part A,2006
5. Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation;Caselli;Am J Med Genet Part A,2008
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