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Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome
22q11.2 deletion syndrome (22q11DS) results from a hemizygous microdeletion on chromosome 22 and is characterized by extensive phenotypic variability. Penetrance of signs, including congenital heart, craniofacial, and neurobehavioral abnormalities, varies widely and is not well correlated with genot...
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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Landes Bioscience
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3925693/ https://ncbi.nlm.nih.gov/pubmed/24448439 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/nucl.27364 |
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