Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

M Koczkowska; T Callens; A Gomes; A Sharp; YJ (Yuan Jia) Chen; AD Hicks; Rianne Oostenbrink; Rick van Minkelen; E Legius; LM Messiaen

doi:10.1038/s41436-018-0269-0

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

M Koczkowska
, T Callens
, A Gomes
, A Sharp
, YJ (Yuan Jia) Chen
, AD Hicks
, Rianne Oostenbrink
, Rick van Minkelen
, E Legius
, LM Messiaen

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

85 Citations (Scopus)

45 Downloads (Pure)

Original language	Undefined/Unknown
Pages (from-to)	867-876
Number of pages	10
Journal	Genetics in Medicine
Volume	21
Issue number	4
DOIs	https://doi.org/10.1038/s41436-018-0269-0
Publication status	Published - 2019

Research programs

EMC MM-04-54-08-A

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10.1038/s41436-018-0269-0

REPUB_110371-OA.pdfFinal published version, 360 KB

http://hdl.handle.net/1765/110371

Cite this

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, YJ., Hicks, AD., Oostenbrink, R., van Minkelen, R., Legius, E., & Messiaen, LM. (2019). Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genetics in Medicine, 21(4), 867-876. https://doi.org/10.1038/s41436-018-0269-0

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Koczkowska, M, Callens, T, Gomes, A, Sharp, A, Chen, YJ, Hicks, AD, Oostenbrink, R , van Minkelen, R, Legius, E & Messiaen, LM 2019, 'Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation', Genetics in Medicine, vol. 21, no. 4, pp. 867-876. https://doi.org/10.1038/s41436-018-0269-0

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T1 - Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

AU - Koczkowska, M

AU - Callens, T

AU - Gomes, A

AU - Sharp, A

AU - Chen, YJ (Yuan Jia)

AU - Hicks, AD

AU - Oostenbrink, Rianne

AU - van Minkelen, Rick

AU - Legius, E

AU - Messiaen, LM

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DO - 10.1038/s41436-018-0269-0

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SN - 1098-3600

VL - 21

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EP - 876

JO - Genetics in Medicine

JF - Genetics in Medicine

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