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The 22q11.2 Deletion Syndrome: A Gene Dosage Perspective
The 22q11.2 deletion/DiGeorge syndrome is a relatively common “genomic” disorder that results from heterozygous deletion of a 3-Mbp segment of chromosome 22. Of the more than 30 genes deleted in this syndrome, TBX1 is the only one that has been found to be mutated in some patients with a phenotype t...
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| Autor principal: | |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi Limited
2006-01-01
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| Colecção: | The Scientific World Journal |
| Acesso em linha: | http://dx.doi.org/10.1100/tsw.2006.317 |
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