Publications

Paganini L et al. A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.Clin Genet. 2019 Mar;95(3):368-374. PMID: 30471091.

Sarmadian R, Gilani A & Biglari HN. A novel variant of Paganini-Miozzo syndrome: a case report.Oxf Med Case Reports. 2023 Mar 25;2023(3):omad024. PMID: 36993824.

Zhang M et al. A novel missense variant of HS6ST2 gene in Paganini-Miozzo syndrome with a rare neurodevelopmental and Endocrine phenotypes.Front Genet. 2025 Jul 4;16:1515260. PMID: 40686562.

Xu L et al. Trio-based exome sequencing broaden the genetic spectrum in keratoconus. Exp Eye Res. 2023 Jan;226:109342. PMID: 36502923.