Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family.

Pande SA, Chan Joiner H, Szafranski P, Gambin T, Edenborough FP, Thompson RE, Parker MJ, Hammond C, Moledina S, Karolak JA, Stankiewicz P

Open source

DOI: 10.1155/humu/7278477
Published: 2026
Container: Human mutation
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1155/humu/7278477,
  title = {Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family.},
  author = {Pande SA and Chan Joiner H and Szafranski P and Gambin T and Edenborough FP and Thompson RE and Parker MJ and Hammond C and Moledina S and Karolak JA and Stankiewicz P},
  year = {2026},
  journal = {Human mutation},
  doi = {10.1155/humu/7278477},
  url = {https://doi.org/10.1155/humu/7278477}
}

RIS

TY  - JOUR
TI  - Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family.
AU  - Pande SA
AU  - Chan Joiner H
AU  - Szafranski P
AU  - Gambin T
AU  - Edenborough FP
AU  - Thompson RE
AU  - Parker MJ
AU  - Hammond C
AU  - Moledina S
AU  - Karolak JA
AU  - Stankiewicz P
PY  - 2026
JO  - Human mutation
DO  - 10.1155/humu/7278477
UR  - https://doi.org/10.1155/humu/7278477
ER  -

APA

SA, P., H, C. J., P, S., T, G., FP, E., RE, T., MJ, P., C, H., S, M., JA, K., & P, S. (2026). Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family.. Human mutation. https://doi.org/10.1155/humu/7278477

Source records

pubmed · retrieved 2026-11-10T11:14:33.283Z