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Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2

✍ Scribed by Paula Sandrin-Garcia; Dagma V. M. Abramides; Lúcia R. Martelli; Ester S. Ramos; Antônio Richieri-Costa; Geraldo A. S. Passos


Publisher
Springer
Year
2007
Tongue
English
Weight
221 KB
Volume
303
Category
Article
ISSN
0300-8177

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## Abstract ## BACKGROUND: The phenotype associated with deletion of the 22q11.2 chromosomal region is highly variable, yet little is known about the source of this variability. Cardiovascular anomalies, including tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, perimembran