Typical Renal-coloboma Syndrome Phenotype in a Patient with a Submicroscopic Deletion of the PAX2 Gene

We present a patient with optic nerve hypoplasia, secondary strabismus, mild deafness, abnormal external ear helices and renal hypoplasia. The clinical phenotype was consistent with renal-coloboma syndrome, but no point mutation in the PAX2 gene could be identified. High resolution array Comparative...

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Bibliographic Details
Main Authors: Laimutis, Kucinskas, Jackson, Craig, Xu, Xinjie, Warman, Berta, Sarunas, Rudaitis, Birute, Pundziene, Schimmenti, Lisa A., Raca, Gordana
Format: Artigo
Language:Inglês
Published: 2012
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4098919/
https://ncbi.nlm.nih.gov/pubmed/22581475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35342
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