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

BACKGROUND: 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 insufficiency, hypocalcemia and a characteristic craniofaci...

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Detalhes bibliográficos
Main Authors: Fernández, Luis, Nevado, Julián, Santos, Fernando, Heine-Suñer, Damià, Martinez-Glez, Victor, García-Miñaur, Sixto, Palomo, Rebeca, Delicado, Alicia, Pajares, Isidora López, Palomares, María, García-Guereta, Luis, Valverde, Eva, Hawkins, Federico, Lapunzina, Pablo
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2009
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2700091/
https://ncbi.nlm.nih.gov/pubmed/19490635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-10-48
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