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Cat Eye Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Cat eye syndrome is a clinically recognizable congenital malformation syndrome consisting primarily of colobomas, anal anomalies, preauricular anomalies, cardiac and renal defects, and mild to moderate mental retardation. The name “cat eye” was introduced because of iris colobomas resembling the pupils of the cat.

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References

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Cat Eye Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_33

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_33

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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