A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.

Mir A, Abbasi Z, Song Y, Lee H, Khajeh A, Jahantigh M, Hajigholami S, Khedri S, Tabatabaiefar MA.

Open source

DOI
10.1186/s13256-026-05973-5
Published
2026-05-02
Container
J Med Case Rep
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1186/s13256-026-05973-5,
  title = {A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.},
  author = {Mir A and  Abbasi Z and  Song Y and  Lee H and  Khajeh A and  Jahantigh M and  Hajigholami S and  Khedri S and  Tabatabaiefar MA.},
  year = {2026},
  journal = {J Med Case Rep},
  doi = {10.1186/s13256-026-05973-5},
  url = {https://doi.org/10.1186/s13256-026-05973-5}
}

RIS

TY  - JOUR
TI  - A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.
AU  - Mir A
AU  -  Abbasi Z
AU  -  Song Y
AU  -  Lee H
AU  -  Khajeh A
AU  -  Jahantigh M
AU  -  Hajigholami S
AU  -  Khedri S
AU  -  Tabatabaiefar MA.
PY  - 2026
JO  - J Med Case Rep
DO  - 10.1186/s13256-026-05973-5
UR  - https://doi.org/10.1186/s13256-026-05973-5
ER  -

APA

A, M., Z, A., Y, S., H, L., A, K., M, J., S, H., S, K., & MA., T. (2026). A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.. J Med Case Rep. https://doi.org/10.1186/s13256-026-05973-5

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