article_metadata: Yilun Tao Dong Han Yiju Wei Lihong Wang Wenxia Song Xiaoze Li
article_metadata: 10.3389/fgene.2021.747422
article_metadata: Front Genet
article_metadata: 2021 Sep 14;12:747422.
article_metadata: snp array unc80 gene chromosome 2 maternal uniparental disomy whole exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/34594366/
article_metadata: Case Reports
article_metadata: PMC8476880
article_metadata: 34594366
article_metadata: 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
article_metadata: 2021