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Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

Ruben Van Paemel UGent, Pauline De Bruyne UGent, Saskia van der Straaten, Marleen D'Hondt UGent, Urlien Fränkel, Annelies Dheedene, Björn Menten UGent and Bert Callewaert UGent (2017) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 173(11). p.3104-3108
abstract
We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. However, our patient showed overlapping features with Nicolaides-Baraitser syndrome and Coffin-Siris syndrome, providing further arguments to reclassify these disorders as "SWI/SNF-related intellectual disability syndromes."
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
ARID2, SWI/SNF complex, coffin-siris syndrome, intellectual disability, nicolaides baraitser syndrome, CHROMATIN-REMODELING COMPLEX, COFFIN-SIRIS SYNDROME, FAMILY PROTEINS, MUTATIONS, GENES, SPECIFICITY, COMPONENTS, PHENOTYPE, GENOTYPE, SUBUNITS
journal title
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Am. J. Med. Genet. A
volume
173
issue
11
pages
3104 - 3108
Web of Science type
Article
Web of Science id
000413425400028
ISSN
1552-4825
DOI
10.1002/ajmg.a.38407
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
8542156
handle
http://hdl.handle.net/1854/LU-8542156
date created
2017-12-16 10:04:26
date last changed
2018-01-08 08:59:44
@article{8542156,
  abstract     = {We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. However, our patient showed overlapping features with Nicolaides-Baraitser syndrome and Coffin-Siris syndrome, providing further arguments to reclassify these disorders as {\textacutedbl}SWI/SNF-related intellectual disability syndromes.{\textacutedbl}},
  author       = {Van Paemel, Ruben and De Bruyne, Pauline and van der Straaten, Saskia and D'Hondt, Marleen and Fr{\"a}nkel, Urlien and Dheedene, Annelies and Menten, Bj{\"o}rn and Callewaert, Bert},
  issn         = {1552-4825},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS PART A},
  keyword      = {ARID2,SWI/SNF complex,coffin-siris syndrome,intellectual disability,nicolaides baraitser syndrome,CHROMATIN-REMODELING COMPLEX,COFFIN-SIRIS SYNDROME,FAMILY PROTEINS,MUTATIONS,GENES,SPECIFICITY,COMPONENTS,PHENOTYPE,GENOTYPE,SUBUNITS},
  language     = {eng},
  number       = {11},
  pages        = {3104--3108},
  title        = {Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability},
  url          = {http://dx.doi.org/10.1002/ajmg.a.38407},
  volume       = {173},
  year         = {2017},
}

Chicago
Van Paemel, Ruben, Pauline De Bruyne, Saskia van der Straaten, Marleen D’Hondt, Urlien Fränkel, Annelies Dheedene, Björn Menten, and Bert Callewaert. 2017. “Confirmation of an ARID2 Defect in SWI/SNF-related Intellectual Disability.” American Journal of Medical Genetics Part A 173 (11): 3104–3108.
APA
Van Paemel, R., De Bruyne, P., van der Straaten, S., D’Hondt, M., Fränkel, U., Dheedene, A., Menten, B., et al. (2017). Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 173(11), 3104–3108.
Vancouver
1.
Van Paemel R, De Bruyne P, van der Straaten S, D’Hondt M, Fränkel U, Dheedene A, et al. Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(11):3104–8.
MLA
Van Paemel, Ruben, Pauline De Bruyne, Saskia van der Straaten, et al. “Confirmation of an ARID2 Defect in SWI/SNF-related Intellectual Disability.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 173.11 (2017): 3104–3108. Print.