Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
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| Title: | Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2. |
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| Authors: | Reunert, Janine1, Heuvel, Alijda1, Rust, Stephan1, Marquardt, Thorsten1, marquat@uni-muenster.de |
| Source: | American Journal of Medical Genetics. Part A; Mar2021, Vol. 185 Issue 3, p930-936, 7p |
| Database: | Applied Science & Technology Source |
| ISSN: | 15524825 |
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| DOI: | 10.1002/ajmg.a.62048 |
