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Diffuse Angiopathy in Adams-Oliver syndrome Associated with Truncating DOCK6 Mutations
Adams-Oliver syndrome (AOS) is a rare malformation syndrome characterized by the presence of two anomalies: aplasia cutis congenita of the scalp and transverse terminal limb defects. Many affected individuals also have additional malformations, including a variety of intracranial anomalies such as p...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4167472/ https://ncbi.nlm.nih.gov/pubmed/25091416 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36685 |
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