Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

Vyne van der Schoot; Sonja de Munnik; Hanka Venselaar; Mariet Elting; Grazia M. S. Mancini; Conny M. A. Ravenswaaij-Arts; Britt-Marie Anderlid; Han G. Brunner; Servi J. C. Stevens

doi:10.1002/mgg3.387

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

Vyne van der Schoot, Sonja de Munnik, Hanka Venselaar, Mariet Elting, Grazia M. S. Mancini, Conny M. A. Ravenswaaij-Arts, Britt-Marie Anderlid, Han G. Brunner, Servi J. C. Stevens

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

Original language	English
Pages (from-to)	393-400
Number of pages	8
Journal	Molecular genetics & genomic medicine
Volume	6
Issue number	3
DOIs	https://doi.org/10.1002/mgg3.387
Publication status	Published - 1 May 2018

Keywords

C2H2zinc finger (ZNF) domain
corpus callosum anomalies
homology modeling
intellectual disability
ZBTB18
DE-NOVO MUTATIONS
INTELLECTUAL DISABILITY
PHENOTYPES
DEFINES
1Q43Q44
RP58

Access to Document

10.1002/mgg3.387

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.387

Cite this

van der Schoot, V., de Munnik, S., Venselaar, H., Elting, M., Mancini, G. M. S., Ravenswaaij-Arts, C. M. A., Anderlid, B-M., Brunner, H. G., & Stevens, S. J. C. (2018). Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. Molecular genetics & genomic medicine, 6(3), 393-400. https://doi.org/10.1002/mgg3.387

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keywords = "C2H2zinc finger (ZNF) domain, corpus callosum anomalies, homology modeling, intellectual disability, ZBTB18, DE-NOVO MUTATIONS, INTELLECTUAL DISABILITY, PHENOTYPES, DEFINES, 1Q43Q44, RP58",

author = "{van der Schoot}, Vyne and {de Munnik}, Sonja and Hanka Venselaar and Mariet Elting and Mancini, {Grazia M. S.} and Ravenswaaij-Arts, {Conny M. A.} and Britt-Marie Anderlid and Brunner, {Han G.} and Stevens, {Servi J. C.}",

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Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. / van der Schoot, Vyne; de Munnik, Sonja; Venselaar, Hanka; Elting, Mariet; Mancini, Grazia M. S.; Ravenswaaij-Arts, Conny M. A.; Anderlid, Britt-Marie; Brunner, Han G.; Stevens, Servi J. C.

In: Molecular genetics & genomic medicine, Vol. 6, No. 3, 01.05.2018, p. 393-400.

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

TY - JOUR

T1 - Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

AU - van der Schoot, Vyne

AU - de Munnik, Sonja

AU - Venselaar, Hanka

AU - Elting, Mariet

AU - Mancini, Grazia M. S.

AU - Ravenswaaij-Arts, Conny M. A.

AU - Anderlid, Britt-Marie

AU - Brunner, Han G.

AU - Stevens, Servi J. C.

PY - 2018/5/1

Y1 - 2018/5/1

KW - C2H2zinc finger (ZNF) domain

KW - corpus callosum anomalies

KW - homology modeling

KW - intellectual disability

KW - ZBTB18

KW - DE-NOVO MUTATIONS

KW - INTELLECTUAL DISABILITY

KW - PHENOTYPES

KW - DEFINES

KW - 1Q43Q44

KW - RP58

U2 - 10.1002/mgg3.387

DO - 10.1002/mgg3.387

M3 - Article

VL - 6

SP - 393

EP - 400

JO - Molecular genetics & genomic medicine

JF - Molecular genetics & genomic medicine

SN - 2324-9269

IS - 3

ER -