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

Open source

DOI: 10.1002/jmd2.12465
Published: 2025 Jan
Container: JIMD reports
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/jmd2.12465,
  title = {Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.},
  author = {Dolgin V and Chabosseau P and Bistritzer J and Noyman I and Staretz-Chacham O and Wormser O and Hadar N and Eskin-Schwartz M and Kanengisser-Pines B and Narkis G and Abramsky R and Shany E and Rutter GA and Marks K and Birk OS},
  year = {2025},
  journal = {JIMD reports},
  doi = {10.1002/jmd2.12465},
  url = {https://doi.org/10.1002/jmd2.12465}
}

RIS

TY  - JOUR
TI  - Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.
AU  - Dolgin V
AU  - Chabosseau P
AU  - Bistritzer J
AU  - Noyman I
AU  - Staretz-Chacham O
AU  - Wormser O
AU  - Hadar N
AU  - Eskin-Schwartz M
AU  - Kanengisser-Pines B
AU  - Narkis G
AU  - Abramsky R
AU  - Shany E
AU  - Rutter GA
AU  - Marks K
AU  - Birk OS
PY  - 2025
JO  - JIMD reports
DO  - 10.1002/jmd2.12465
UR  - https://doi.org/10.1002/jmd2.12465
ER  -

APA

V, D., P, C., J, B., I, N., O, S., O, W., N, H., M, E., B, K., G, N., R, A., E, S., GA, R., K, M., & OS, B. (2025). Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.. JIMD reports. https://doi.org/10.1002/jmd2.12465

Source records

pubmed · retrieved 2026-09-26T19:05:07.628Z