Yilun Tao Dong Han Yiju Wei Lihong Wang Wenxia Song Xiaoze Li
10.3389/fgene.2021.747422
Front Genet
2021 Sep 14;12:747422.
snp array unc80 gene chromosome 2 maternal uniparental disomy whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/34594366/
Case Reports
PMC8476880
34594366
Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2
2021