A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

• Main Authors: Fernández Luis (Author), Nevado Julián (Author), Santos Fernando (Author), Heine-Suñer Damià (Author), Martinez-Glez Victor (Author), García-Miñaur Sixto (Author), Palomo Rebeca (Author), Delicado Alicia (Author), Pajares Isidora (Author), Palomares María (Author), García-Guereta Luis (Author), Valverde Eva (Author), Hawkins Federico (Author), Lapunzina Pablo (Author)
• Format: Book
• Published: BMC, 2009-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insu...