Associated Papers
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.
Leung M et al.
Rare (amsterdam, Netherlands), 2024
Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.
Stewart TM et al.
Embo Molecular Medicine, 2023
37702369 (PubMed )
Supplement: EMMM-15-e17833-s003.pdf
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
Marhabaie M et al.
Cold Spring Harbor Molecular Case Studies, 2021
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