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Publication
A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects
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Advisor(s)
Abstract(s)
Description
Keywords
Cell Cycle Proteins Female Gonadal Dysgenesis, 46,XX Hearing Loss, Sensorineural Humans Kidney Diseases Mitochondria Whole Exome Sequencing Genetic Predisposition to Disease HDE GEN
Citation
Clin Genet . 2018 Aug;94(2):276-277.