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Paper Details

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
Clin Genet
16
2017
GFER, GFER gene, congenital cataracts, developmental delay, encephalomyopathy, girl, hearing loss, hypotrophy, lactic acidosis, mitochondrial condition, mitochondrial disease, mitochondrial myopathy, patients, progressive, recessive encephalomyopathy, respiratory chain deficiency in 3, ultra
Author NameAffiliation
Jaak JaekenCenter for Metabolic Diseases, University Hospital Gasthuisberg
Arthur L BeaudetBaylor College of Medicine
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Datasets

Release 1.2