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
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
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Al-Jawahiri R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
SOX11-related syndrome: report on a new case and review.
Wakim V et al.
Clinical Dysmorphology, 2021
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