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Article

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

American journal of medical genetics. Part A - 1 Mar 2015

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

Abstract excerpt

We report on the molecular characterization of a microdeletion of approximately 2.5 Mb 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 genomic hybridization, and whole genome re-sequencing. Among the genes present in the deleted region, we focused our...

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Identifiers

PMID: 25655429
DOI: 10.1002/ajmg.a.36895
PMCID: PMC4591042

Genes

FOXI3

Provenance

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