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B. Burnytė

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Open access Jul 2026

A Novel RNF216 Variant Causing Gordon Holmes Syndrome in Three Lithuanian Siblings

A novel homozygous missense variant in RNF216 gene c.1055T>G (p.(Phe352Cys)) in three siblings with Gordon Holmes syndrome is reported, contributing to the limited knowledge of GHS and highlighting the importance of hypogonadotropic hypogonadism treatment and close observation of neurological symptoms that may develop over time.

Melita Karlonaitė, Ugnė Kanapickaitė, Romena Laukienė et al. · 0 citations