A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy
Pouria Mohammadi, Morteza Heidari, Mahmoud Reza Ashrafi, Nejat Mahdieh, Masoud Garshasbi
Topics & Concepts
Missense mutationLeukoencephalopathyProbandMedicineEncephalopathyExome sequencingGlobal developmental delayGeneticsPediatricsPathologyMutationInternal medicineBiologyGeneDiseasePhenotypeRNA modifications and cancerGenomics and Rare DiseasesGenetics and Neurodevelopmental Disorders