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New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.

Heinrich M HM Holak, Jurgen J Kohlhase, Sophie A SA Holak, and Nikolai H NH Holak

Ophthalmic Genet 29(2):79-84 (2008) PMID 18484313

To report new findings in the CHARGE syndrome with phenotypic anomalies associated with the R2319C mutation in the CHD7 gene.

DOI: 10.1080/13816810801918391
Version: za2963e q8za1 q8zb2 q8zc8 q8zd0 q8ze9 q8zf5 q8zgb

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