Novel pathogenic OCRL mutations of Chinese children affected by oculocerebrorenal syndrome
Release date:
2021-08-23
Description:
Using whole-exome sequencing, this study reports two novel OCRL variants associated with severe ocular and neurologic deficiency in spite of a mild renal dysfunction.
Organization: Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology
Submission date: 2021-08-13
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