Associated Papers
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.
Tao Y et al.
Frontiers in Genetics, 2021
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.
He Y et al.
Gene, 2018
Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.
Xiao B et al.
American Journal of Medical Genetics. Part A, 2018
Select a paper to view details