Associated Papers
Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.
Wu R et al.
Frontiers in Pediatrics, 2025
40933692 (PubMed )
Supplement: Datasheet2.xlsx › Sheet1
Novel variants in the SOX11 gene: clinical description of seven new patients.
Schincariol-Manhe B et al.
European Journal of Human Genetics : Ejhg, 2024
A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.
Bai G et al.
Bmc Medical Genomics, 2024
Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.
Wu R et al.
American Journal of Medical Genetics. Part A, 2024
Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss.
Wang Q et al.
American Journal of Medical Genetics. Part A, 2023
Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.
Alburaiky S et al.
American Journal of Medical Genetics. Part A, 2022
Select a paper to view details