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

Koos Jaspers; Anja Raams; MC Silengo; Nils Wijgers; LJ (Laura) Niedernhofer; AR Robinson; GC Giglia; D (Deborah) Hoogstraten; WJ (Wim) Kleijer; Jan Hoeijmakers; Wim Vermeulen

doi:10.1086/512486

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

Koos Jaspers, Anja Raams, MC Silengo, Nils Wijgers, LJ (Laura) Niedernhofer, AR Robinson, GC Giglia, D (Deborah) Hoogstraten, WJ (Wim) Kleijer, Jan Hoeijmakers, Wim Vermeulen

Research output: Contribution to journal › Article › Academic › peer-review

163 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	457-466
Number of pages	10
Journal	American Journal of Human Genetics
Volume	80
Issue number	3
DOIs	https://doi.org/10.1086/512486
Publication status	Published - 2007

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10.1086/512486

http://hdl.handle.net/1765/35561

Cite this

Jaspers, K., Raams, A., Silengo, MC., Wijgers, N., Niedernhofer, LJ., Robinson, AR., Giglia, GC., Hoogstraten, D., Kleijer, WJ., Hoeijmakers, J., & 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. American Journal of Human Genetics, 80(3), 457-466. https://doi.org/10.1086/512486

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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 = "Koos Jaspers and Anja Raams and MC Silengo and Nils Wijgers and Niedernhofer, {LJ (Laura)} and AR Robinson and GC Giglia and Hoogstraten, {D (Deborah)} and Kleijer, {WJ (Wim)} and Jan Hoeijmakers and Wim Vermeulen",

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Jaspers, K, Raams, A, Silengo, MC, Wijgers, N, Niedernhofer, LJ, Robinson, AR, Giglia, GC, Hoogstraten, D, Kleijer, WJ, Hoeijmakers, J & 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', American Journal of Human Genetics, vol. 80, no. 3, pp. 457-466. https://doi.org/10.1086/512486

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. / Jaspers, Koos; Raams, Anja; Silengo, MC et al.

In: American Journal of Human Genetics, Vol. 80, No. 3, 2007, p. 457-466.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - 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 - Jaspers, Koos

AU - Raams, Anja

AU - Silengo, MC

AU - Wijgers, Nils

AU - Niedernhofer, LJ (Laura)

AU - Robinson, AR

AU - Giglia, GC

AU - Hoogstraten, D (Deborah)

AU - Kleijer, WJ (Wim)

AU - Hoeijmakers, Jan

AU - Vermeulen, Wim

PY - 2007

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U2 - 10.1086/512486

DO - 10.1086/512486

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VL - 80

SP - 457

EP - 466

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 3

ER -