Associated Papers
Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.
Sun B et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.
Li X et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.
Ding Y et al.
Frontiers in Genetics, 2022
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