Compound heterozygous mutations in CC2D2A cause Meckel-Gruber syndrome: a case report and review of the literature.

Liu L, Lv Y, Zhou X

DOI: 10.1186/s13256-026-06070-3
Published: 2026 May 4
Container: Journal of medical case reports
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1186/s13256-026-06070-3,
  title = {Compound heterozygous mutations in CC2D2A cause Meckel-Gruber syndrome: a case report and review of the literature.},
  author = {Liu L and Lv Y and Zhou X},
  year = {2026},
  journal = {Journal of medical case reports},
  doi = {10.1186/s13256-026-06070-3},
  url = {https://doi.org/10.1186/s13256-026-06070-3}
}

RIS

TY  - JOUR
TI  - Compound heterozygous mutations in CC2D2A cause Meckel-Gruber syndrome: a case report and review of the literature.
AU  - Liu L
AU  - Lv Y
AU  - Zhou X
PY  - 2026
JO  - Journal of medical case reports
DO  - 10.1186/s13256-026-06070-3
UR  - https://doi.org/10.1186/s13256-026-06070-3
ER  -

APA

L, L., Y, L., & X, Z. (2026). Compound heterozygous mutations in CC2D2A cause Meckel-Gruber syndrome: a case report and review of the literature.. Journal of medical case reports. https://doi.org/10.1186/s13256-026-06070-3

Source records

pubmed · retrieved 2026-09-26T19:18:36.622Z