A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8-Reference-Cited by-同舟云学术

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

Published:2019-01-22 Issue:4 Volume:64 Page:271-280
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Yasin Heba,Gibson William T.,Langlois Sylvie,Stowe Robert M.^ORCID,Tsang Erica S.,Lee Leora,Poon Jenny,Tran Grant,Tyson Christine,Wong Chi Kin,Marra Marco A.,Friedman Jan M.,Zahir Farah R.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0561-0.pdf

Reference35 articles.

1. Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, et al. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet. 2007;44:556–61.

2. Prontera P, Ottaviani V, Toccaceli D, Rogaia D, Ardisia C, Romani R, et al. Recurrent approximately 100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. Am J Med Genet A. 2014;164A:3137–41.

3. Drabova J, Seemanova E, Hancarova M, Pourova R, Horacek M, Jancuskova T, et al. Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8. Am J Med Genet A. 2015;167:837–41.

4. Merner N, Forgeot d’Arc B, Bell SC, Maussion G, Peng H, Gauthier J, et al. A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): a case report and literature review. Am J Med Genet A. 2016;170A:1225–35.

5. Stolerman ES, Smith B, Chaubey A, Jones JR. CHD8 intragenic deletion associated with autism spectrum disorder. Eur J Med Genet. 2016;59:189–94.

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