Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

P Magini; Daphne Smits; Laura Vandervore; Rachel Schot; M Columbaro; Esmee Kasteleijn; Frans Verheijen; Martina Wilke; Marjon van Slegtenhorst; AC Jansen; Mees Ent; Marjolein Dremmen; Marie Claire de Wit; Jeroen Demmers; Peter van der Spek; M.W.J. Fornerod; Grazia Verheijen - Mancini

doi:10.1016/j.ajhg.2019.08.006

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

P Magini, Daphne Smits, Laura Vandervore, Rachel Schot, M Columbaro, Esmee Kasteleijn, Frans Verheijen, Martina Wilke, Marjon van Slegtenhorst, AC Jansen, Mees Ent, Marjolein Dremmen, Marie Claire de Wit, Jeroen Demmers, Peter van der Spek, M.W.J. Fornerod, Grazia Verheijen - Mancini

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

33 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	689-705
Number of pages	17
Journal	American Journal of Human Genetics
Volume	105
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2019.08.006
Publication status	Published - 2019

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10.1016/j.ajhg.2019.08.006

http://hdl.handle.net/1765/120064

Cite this

Magini, P., Smits, D., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., Verheijen, F., Wilke, M., van Slegtenhorst, M., Jansen, AC., Ent, M., Dremmen, M., de Wit, M. C., Demmers, J., van der Spek, P., Fornerod, M. W. J., & Verheijen - Mancini, G. (2019). Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. American Journal of Human Genetics, 105(4), 689-705. https://doi.org/10.1016/j.ajhg.2019.08.006

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title = "Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis",

author = "P Magini and Daphne Smits and Laura Vandervore and Rachel Schot and M Columbaro and Esmee Kasteleijn and Frans Verheijen and Martina Wilke and {van Slegtenhorst}, Marjon and AC Jansen and Mees Ent and Marjolein Dremmen and {de Wit}, {Marie Claire} and Jeroen Demmers and {van der Spek}, Peter and M.W.J. Fornerod and {Verheijen - Mancini}, Grazia",

year = "2019",

doi = "10.1016/j.ajhg.2019.08.006",

language = "Undefined/Unknown",

volume = "105",

pages = "689--705",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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Magini, P, Smits, D, Vandervore, L, Schot, R, Columbaro, M, Kasteleijn, E , Verheijen, F , Wilke, M , van Slegtenhorst, M, Jansen, AC, Ent, M, Dremmen, M , de Wit, MC , Demmers, J , van der Spek, P , Fornerod, MWJ & Verheijen - Mancini, G 2019, 'Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis', American Journal of Human Genetics, vol. 105, no. 4, pp. 689-705. https://doi.org/10.1016/j.ajhg.2019.08.006

TY - JOUR

T1 - Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

AU - Magini, P

AU - Smits, Daphne

AU - Vandervore, Laura

AU - Schot, Rachel

AU - Columbaro, M

AU - Kasteleijn, Esmee

AU - Verheijen, Frans

AU - Wilke, Martina

AU - van Slegtenhorst, Marjon

AU - Jansen, AC

AU - Ent, Mees

AU - Dremmen, Marjolein

AU - de Wit, Marie Claire

AU - Demmers, Jeroen

AU - van der Spek, Peter

AU - Fornerod, M.W.J.

AU - Verheijen - Mancini, Grazia

PY - 2019

Y1 - 2019

U2 - 10.1016/j.ajhg.2019.08.006

DO - 10.1016/j.ajhg.2019.08.006

M3 - Article

SN - 0002-9297

VL - 105

SP - 689

EP - 705

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -