Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.

Velo-cardio-facial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients have hemizygous deletions for a part of 22q11, suggesting that haploinsufficiency in this region is responsible for its etiology....

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Autori principali: Carlson, C, Sirotkin, H, Pandita, R, Goldberg, R, McKie, J, Wadey, R, Patanjali, S R, Weissman, S M, Anyane-Yeboa, K, Warburton, D, Scambler, P, Shprintzen, R, Kucherlapati, R, Morrow, B E
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1997
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715959/
https://ncbi.nlm.nih.gov/pubmed/9326327
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