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

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

<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...

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Main Authors: Fernández Luis, Nevado Julián, Santos Fernando, Heine-Suñer Damià, Martinez-Glez Victor, García-Miñaur Sixto, Palomo Rebeca, Delicado Alicia, Pajares Isidora, Palomares María, García-Guereta Luis, Valverde Eva, Hawkins Federico, Lapunzina Pablo
Format: Article
Language:English
Published: BMC 2009-06-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/10/48

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http://www.biomedcentral.com/1471-2350/10/48

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