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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome with Variable Cardiac Anomalies
BACKGROUND: Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected...
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| Publicado no: | Circ Cardiovasc Genet |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4545518/ https://ncbi.nlm.nih.gov/pubmed/25963545 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.115.001086 |
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