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
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).
Obeid T et al.
Metabolic Brain Disease, 2018
Phenotypic evolution of UNC80 loss of function.
Valkanas E et al.
American Journal of Medical Genetics. Part A, 2016
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