NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature

This study adds to the phenotypic and mutational spectrum of PEBEL2. We review the existing phenotypic and genotypic information for the individuals with this neurometabolic condition.PMID:34161859 | DOI:10.1016/j.ejmg.2021.104266

Source: European Journal of Medical Genetics - June 23, 2021 Category: Genetics & Stem Cells Authors: Purvi Majethia Shivani Mishra Lakshmi Priya Rao Raghavendra Rao Anju Shukla Source Type: research