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Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.
Dolgin V, Chabosseau P, Bistritzer J, Noyman I, Staretz-Chacham O, Wormser O, Hadar N, Eskin-Schwartz M, Kanengisser-Pines B, Narkis G, Abramsky R, Shany E, Rutter GA, Marks K, Birk OS. Dolgin V, et al. Among authors: bistritzer j. JIMD Rep. 2025 Jan 9;66(1):e12465. doi: 10.1002/jmd2.12465. eCollection 2025 Jan. JIMD Rep. 2025. PMID: 39790720 Free PMC article.