First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure
- DOI
- 10.1086/512486
- Published
- 2007-03
- Container
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1086/512486,
title = {First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure},
author = {Nicolaas G.J. Jaspers and Anja Raams and Margherita Cirillo Silengo and Nils Wijgers and Laura J. Niedernhofer and Andria Rasile Robinson and Giuseppina Giglia-Mari and Deborah Hoogstraten and Wim J. Kleijer and Jan H.J. Hoeijmakers and Wim Vermeulen},
year = {2007},
journal = {The American Journal of Human Genetics},
doi = {10.1086/512486},
url = {https://doi.org/10.1086/512486}
}RIS
TY - JOUR TI - First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure AU - Nicolaas G.J. Jaspers AU - Anja Raams AU - Margherita Cirillo Silengo AU - Nils Wijgers AU - Laura J. Niedernhofer AU - Andria Rasile Robinson AU - Giuseppina Giglia-Mari AU - Deborah Hoogstraten AU - Wim J. Kleijer AU - Jan H.J. Hoeijmakers AU - Wim Vermeulen PY - 2007 JO - The American Journal of Human Genetics DO - 10.1086/512486 UR - https://doi.org/10.1086/512486 ER -
APA
Jaspers, N. G., Raams, A., Silengo, M. C., Wijgers, N., Niedernhofer, L. J., Robinson, A. R., Giglia-Mari, G., Hoogstraten, D., Kleijer, W. J., Hoeijmakers, J. H., & Vermeulen, W. (2007). First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure. The American Journal of Human Genetics. https://doi.org/10.1086/512486
Source records
- crossref · retrieved 2026-09-27T00:55:59.753Z