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Article

CHARGE syndrome without colobomas: Ophthalmic findings.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2020

Dosunmu Eniolami O, Castleberry Katherine M

Abstract excerpt

To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients-clinically confirmed diagnosis with positive CHD7 mutation-seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in...

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PMID: 32914532
DOI: 10.1002/ajmg.c.31840

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