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
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Pasquetti D et al.
Clinical Genetics, 2024
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.
Alburaiky S et al.
American Journal of Medical Genetics. Part A, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.
Hanker B et al.
European Journal of Human Genetics : Ejhg, 2022
SOX11-related syndrome: report on a new case and review.
Wakim V et al.
Clinical Dysmorphology, 2021
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F et al.
Journal of Human Genetics, 2019
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Zawerton A et al.
American Journal of Human Genetics, 2019
Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.
Okamoto N et al.
Congenital Anomalies, 2018
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