Genotype-phenotype correlation in 22q11.2 deletion syndrome

• Main Authors: Michaelovsky Elena (Author), Frisch Amos (Author), Carmel Miri (Author), Patya Miriam (Author), Zarchi Omer (Author), Green Tamar (Author), Basel-Vanagaite Lina (Author), Weizman Abraham (Author), Gothelf Doron (Author)
• Format: Book
• Published: BMC, 2012-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22q11.2 with highly variable physical and neuropsychiatric manifestations. We explored the genotype-phenotype relationship in a relatively...