Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation
Our study expands the spectrum of <i>KIDINS220</i> variants associated with AR-SINO and provides a valuable genotype-phenotype correlation for pathogenic <i>KIDINS220</i> variants.
Authors
- Shixiu Liao
- Xin‐Ying Ji (ORCID: https://orcid.org/0000-0003-0690-4206)
- Xiaodong Huo (ORCID: https://orcid.org/0000-0002-5812-7990)
- Zhenglong Guo (ORCID: https://orcid.org/0000-0002-6251-3093)
- Wenke Yang (ORCID: https://orcid.org/0000-0002-1785-2184)
- Yanjun Li (ORCID: https://orcid.org/0000-0002-6277-4189)
- Shuyue Wang (ORCID: https://orcid.org/0000-0002-5861-5986)
- Ke Yang (ORCID: https://orcid.org/0000-0003-2157-3353)
- Bingtao Hao (ORCID: https://orcid.org/0000-0003-1997-9338)
Institutions
- Henan University (CN)
- National Health and Family Planning Commission (CN)
- Zhengzhou University (CN)
- Henan Provincial People's Hospital (CN)
- Central Hospital of Wuhan (CN)
Publication Details
- Journal
- Heliyon
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1016/j.heliyon.2024.e37355
- Citations
- 3
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.80
Funders
- Henan Provincial People's Hospital