Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation
Year: 2024
Type: article
Study design: Observational Study
Abstract: Background: variants. Methods: variants. Results: are associated with VENARG or autosomal recessive SINO (AR-SINO), whereas carboxy-terminal truncated variants that escape nonsense-mediated mRNA decay and lack amino acid residues 1507-1529 are linked to autosomal dominant SINO (AD-SINO). Patients with AR-SINO exhibit more severe clinical features compared to those with AD-SINO. Conclusions: variants.
Source: Heliyon
Authors: Wenke Yang, Shuyue Wang, Xiaodong Huo, Ke Yang, Zhenglong Guo, Yanjun Li, Xinying Ji, Bingtao Hao, Shixiu Liao
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,100
Awards: G1583989946, G3374516046, G450940319
OpenAlex ID: W4402177096