NSMCE2 / MMS21 structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease.

Poleg T, Hadar N, Dolgin V, Narkis G, Neuhaus M, Aminov I, Eremenko E, Safran A, Agam N, Jean MM, Freund O, Wachsman U, Kanengisser-Pines B, Osyntsov L, Manor E, Birk OS

Open source

DOI: 10.1038/s41431-026-02222-7
Published: 2026 Sep 21
Container: European journal of human genetics : EJHG
Publisher: Not recorded
Open access: no

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-026-02222-7,
  title = {NSMCE2 / MMS21 structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease.},
  author = {Poleg T and Hadar N and Dolgin V and Narkis G and Neuhaus M and Aminov I and Eremenko E and Safran A and Agam N and Jean MM and Freund O and Wachsman U and Kanengisser-Pines B and Osyntsov L and Manor E and Birk OS},
  year = {2026},
  journal = {European journal of human genetics : EJHG},
  doi = {10.1038/s41431-026-02222-7},
  url = {https://doi.org/10.1038/s41431-026-02222-7}
}

RIS

TY  - JOUR
TI  - NSMCE2 / MMS21 structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease.
AU  - Poleg T
AU  - Hadar N
AU  - Dolgin V
AU  - Narkis G
AU  - Neuhaus M
AU  - Aminov I
AU  - Eremenko E
AU  - Safran A
AU  - Agam N
AU  - Jean MM
AU  - Freund O
AU  - Wachsman U
AU  - Kanengisser-Pines B
AU  - Osyntsov L
AU  - Manor E
AU  - Birk OS
PY  - 2026
JO  - European journal of human genetics : EJHG
DO  - 10.1038/s41431-026-02222-7
UR  - https://doi.org/10.1038/s41431-026-02222-7
ER  -

APA

T, P., N, H., V, D., G, N., M, N., I, A., E, E., A, S., N, A., MM, J., O, F., U, W., B, K., L, O., E, M., & OS, B. (2026). NSMCE2 / MMS21 structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-026-02222-7

Source records

pubmed · retrieved 2026-09-26T04:32:54.265Z
europe-pmc · retrieved 2026-09-26T04:32:54.282Z