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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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Détails bibliographiques
Auteurs principaux: Digilio, M. Cristina, McDonald-McGinn, Donna M., Heike, Carrie, Catania, Charles, Dallapiccola, Bruno, Marino, Bruno, Zackai, Elaine H.
Format: Artigo
Langue:Inglês
Publié: 2009
Sujets:
Accès en ligne: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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