Congenital Aural Atresia Associated With Agenesis of Internal Carotid Artery in a Girl With a FOXI3 Deletion

We report on the molecular characterization of a microdeletion of approximately 2.5Mb at 2p11.2 in a female baby with left congenital aural atresia, microtia, and ipsilateral internal carotid artery agenesis. The deletion was characterized by fluorescence in situ hybridization, array comparative gen...

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Bibliografiset tiedot
Julkaisussa:Am J Med Genet A
Päätekijät: Tassano, Elisa, Jagannathan, Vidhya, Drögemüller, Cord, Leoni, Massimiliano, Hytönen, Marjo K., Severino, Mariasavina, Gimelli, Stefania, Cuoco, Cristina, Di Rocco, Maja, Sanio, Kirsi, Groves, Andrew K., Leeb, Tosso, Gimelli, Giorgio
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2015
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4591042/
https://ncbi.nlm.nih.gov/pubmed/25655429
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36895
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