Lu-Lu Yan

[Genetic analysis of a male with Multiple morphological abnormalities of sperm flagella combined with sperm head abnormalities due to compound heterozygous variants of DNAH1 gene and a literature review].

[Clinical and genetic analysis of a child with Relapsing encephalopathy with cerebellar ataxia due to variant of ATP1A3 gene].

The c.2267G>A (p.Arg756His) variant of the ATP1A3 gene probably underlay the pathogenesis of RECA in this proband and has enriched the variant spectrum of the ATP1A3 gene and the clinical phenotype spectrum of patients with ATP1A3 gene-associated RECA.