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Severe Neonatal Hypotonia Due to SLC30A5 Variant Affecting Function of ZnT5 Zinc Transporter

Vadim Dolgin,Pauline Chabosseau,Jacob Bistritzer,Iris Noyman,Orna Staretz-Chacham,Ohad Wormser,Noam Hadar,Marina Eskin-Schwartz, Bibi Kanengisser-Pines,Ginat Narkis,Ramy Abramsky,Eilon Shany, Guy A. Rutter,Kyla Marks,Ohad S. Birk

JIMD REPORTS（2025）

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Key words
hypotonia,mutation,neurological syndrome,ZnT5
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