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.
Frontiers in genetics（2021）
Key words
maternal uniparental disomy,chromosome 2,UNC80 gene,SNP array,whole exome sequencing
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