Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree

ConclusionsThese are the first findings of a non ‐consanguineous Chinese pedigree with a homozygousNSUN2 variant. We expanded the phenotypic spectrum associated withNSUN2 variations.

Source: Molecular Genetics & Genomic Medicine - September 30, 2020 Category: Genetics & Stem Cells Authors: Songyang Sun, Lin Chen, Yuchuan Wang, Jian Wang, Niu Li, Xike Wang Tags: ORIGINAL ARTICLE Source Type: research