Speech and language deficits are central to SETBP1 haploinsufficiency disorder-Reference-Cited by-同舟云学术

Speech and language deficits are central to SETBP1 haploinsufficiency disorder

Published:2021-04-27 Issue:8 Volume:29 Page:1216-1225
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Morgan Angela^ORCID,Braden Ruth,Wong Maggie M. K.^ORCID,Colin Estelle^ORCID,Amor David,Liégeois Frederique,Srivastava Siddharth^ORCID,Vogel Adam,Bizaoui Varoona,Ranguin Kara^ORCID,Fisher Simon E.^ORCID,van Bon Bregje W.

Funder

Department of Health | National Health and Medical Research Council

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://www.nature.com/articles/s41431-021-00894-x.pdf

Reference34 articles.

1. Marseglia G, Scordo MR, Pescucci C, Nannetti G, Biagini E, Scandurra V, et al. 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. Eur J Med Genet. 2012;55:216–21.

2. Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380:1674–82.

3. Filges I, Shimojima K, Okamoto N, Röthlisberger B, Weber P, Huber AR, et al. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet. 2011;48:117–22.

4. Coe BP, Witherspoon K, Rosenfeld JA, van Bon BWM, Vulto-van Silfhout AT, Bosco P, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014;46:1063–71.

5. Morgan AT, Eecen KT, Pezic A, Brommeyer K, Mei C, Eadie P, et al. Who to refer for speech therapy at 4 years of age versus who to “watch and wait”? J Pediatr. 2017;185:200–4.

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