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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | 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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