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

^*Corresponding author for this work

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

@article{693e2c6ac23b41ceb5163b882bbb621c,

title = "Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene",

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.}",

year = "2018",

month = may,

day = "1",

doi = "10.1002/mgg3.387",

language = "English",

volume = "6",

pages = "393--400",

journal = "Molecular genetics & genomic medicine",

issn = "2324-9269",

publisher = "Wiley",

number = "3",

}

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

C2 - 29573576

VL - 6

SP - 393

EP - 400

JO - Molecular genetics & genomic medicine

JF - Molecular genetics & genomic medicine

SN - 2324-9269

IS - 3

ER -