Associated Papers
Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.
Sheng H et al.
Orphanet Journal of Rare Diseases, 2025
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
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
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Hempel A et al.
Journal of Medical Genetics, 2016
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