Associated Papers
A novel missense variant of HS6ST2 gene in Paganini-Miozzo syndrome with a rare neurodevelopmental and Endocrine phenotypes.
Zhang M et al.
Frontiers in Genetics, 2025
A novel variant of Paganini-Miozzo syndrome: a case report.
Sarmadian R et al.
Oxford Medical Case Reports, 2023
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.
Paganini L et al.
Clinical Genetics, 2019
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