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Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2
We report on three unrelated patients with the 22q11.2 microdeletion syndrome (del22q11) who have phenotypic anomalies compatible with oculo-auriculo-vertebral spectrum (OAVS). Hemifacial microsomia, unilateral microtia, hearing loss, congenital heart/aortic arch arteries defects, and feeding diffic...
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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2009
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4138507/ https://ncbi.nlm.nih.gov/pubmed/19890921 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33034 |
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