Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.

Nevondwe P, Mudau M, Seymour H, Kerr R, Lombard Z, Krause A, Carstens N

Open source

DOI: 10.1002/mgg3.70295
Published: 2026 Sep
Container: Molecular genetics & genomic medicine
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/mgg3.70295,
  title = {Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.},
  author = {Nevondwe P and Mudau M and Seymour H and Kerr R and Lombard Z and Krause A and Carstens N},
  year = {2026},
  journal = {Molecular genetics \& genomic medicine},
  doi = {10.1002/mgg3.70295},
  url = {https://doi.org/10.1002/mgg3.70295}
}

RIS

TY  - JOUR
TI  - Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.
AU  - Nevondwe P
AU  - Mudau M
AU  - Seymour H
AU  - Kerr R
AU  - Lombard Z
AU  - Krause A
AU  - Carstens N
PY  - 2026
JO  - Molecular genetics & genomic medicine
DO  - 10.1002/mgg3.70295
UR  - https://doi.org/10.1002/mgg3.70295
ER  -

APA

P, N., M, M., H, S., R, K., Z, L., A, K., & N, C. (2026). Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.. Molecular genetics & genomic medicine. https://doi.org/10.1002/mgg3.70295

Source records

pubmed · retrieved 2026-09-26T02:01:50.135Z
europe-pmc · retrieved 2026-09-26T02:01:50.148Z
doaj · retrieved 2026-09-26T02:01:50.179Z