Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Katherine MacKenzie; Bianca de Graaf; A Syrimis; Yuying Zhao; Erwin Brosens; Grazia Verheijen - Mancini; Rachel Schot; Dicky Halley; Martina Wilke; A Vøllo; F Flinter; A Green; S Mansour; J Pilch; Z Stark; E Zamba-Papanicolaou; V Christophidou-Anastasiadou; Robert Hofstra; JD Jongbloed; N Nicolaou; GA Tanteles; Alice Brooks; Maria Alves

doi:10.1002/humu.24097

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Katherine MacKenzie, Bianca de Graaf, A Syrimis, Yuying Zhao, Erwin Brosens, Grazia Verheijen - Mancini, Rachel Schot, Dicky Halley, Martina Wilke, A Vøllo, F Flinter, A Green, S Mansour, J Pilch, Z Stark, E Zamba-Papanicolaou, V Christophidou-Anastasiadou, Robert Hofstra, JD Jongbloed, N NicolaouGA Tanteles, Alice Brooks, Maria Alves

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

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Original language	English
Pages (from-to)	1906-1917
Number of pages	12
Journal	Human Mutation
Volume	41
Issue number	11
DOIs	https://doi.org/10.1002/humu.24097
Publication status	Published - 2020

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http://hdl.handle.net/1765/133815

Cite this

MacKenzie, K., de Graaf, B., Syrimis, A., Zhao, Y., Brosens, E., Verheijen - Mancini, G., Schot, R., Halley, D., Wilke, M., Vøllo, A., Flinter, F., Green, A., Mansour, S., Pilch, J., Stark, Z., Zamba-Papanicolaou, E., Christophidou-Anastasiadou, V., Hofstra, R., Jongbloed, JD., ... Alves, M. (2020). Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. Human Mutation, 41(11), 1906-1917. https://doi.org/10.1002/humu.24097

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title = "Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP",

author = "Katherine MacKenzie and {de Graaf}, Bianca and A Syrimis and Yuying Zhao and Erwin Brosens and {Verheijen - Mancini}, Grazia and Rachel Schot and Dicky Halley and Martina Wilke and A V{\o}llo and F Flinter and A Green and S Mansour and J Pilch and Z Stark and E Zamba-Papanicolaou and V Christophidou-Anastasiadou and Robert Hofstra and JD Jongbloed and N Nicolaou and GA Tanteles and Alice Brooks and Maria Alves",

year = "2020",

doi = "10.1002/humu.24097",

language = "English",

volume = "41",

pages = "1906--1917",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley & Sons Inc.",

number = "11",

}

MacKenzie, K, de Graaf, B, Syrimis, A, Zhao, Y, Brosens, E , Verheijen - Mancini, G , Schot, R, Halley, D, Wilke, M, Vøllo, A, Flinter, F, Green, A, Mansour, S, Pilch, J, Stark, Z, Zamba-Papanicolaou, E, Christophidou-Anastasiadou, V, Hofstra, R, Jongbloed, JD, Nicolaou, N, Tanteles, GA, Brooks, A & Alves, M 2020, 'Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP', Human Mutation, vol. 41, no. 11, pp. 1906-1917. https://doi.org/10.1002/humu.24097

TY - JOUR

T1 - Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

AU - MacKenzie, Katherine

AU - de Graaf, Bianca

AU - Syrimis, A

AU - Zhao, Yuying

AU - Brosens, Erwin

AU - Verheijen - Mancini, Grazia

AU - Schot, Rachel

AU - Halley, Dicky

AU - Wilke, Martina

AU - Vøllo, A

AU - Flinter, F

AU - Green, A

AU - Mansour, S

AU - Pilch, J

AU - Stark, Z

AU - Zamba-Papanicolaou, E

AU - Christophidou-Anastasiadou, V

AU - Hofstra, Robert

AU - Jongbloed, JD

AU - Nicolaou, N

AU - Tanteles, GA

AU - Brooks, Alice

AU - Alves, Maria

PY - 2020

Y1 - 2020

U2 - 10.1002/humu.24097

DO - 10.1002/humu.24097

M3 - Article

C2 - 32939943

SN - 1059-7794

VL - 41

SP - 1906

EP - 1917

JO - Human Mutation

JF - Human Mutation

IS - 11

ER -