Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant

Overview of attention for article published in European Journal of Human Genetics, March 2021

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Identification of a novel phenotype of external ear deformity related to Coffin–Siris syndrome‐9 and literature review

Article in American Journal of Medical Genetics Part A (April 2024)

Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism

Preprint in Research Square (January 2024)

Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype

Article in Clinical Genetics (August 2023)