Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant. Issue 6 (28th September 2017)

• Record Type: Journal Article
• Authors: Lebrun, N.; Parent, P.; Gendras, J.; Billuart, P.; Poirier, K.; Bienvenu, T.
• Is Part Of: Clinical genetics. Volume 92:Issue 6(2017)
• Page Start: 669
• Page End: 670
• Publication Date: 2017-09-28
• Subjects: Autism spectrum disorders -- CHD2 -- exome -- germinal mosaicism; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13073
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract : Germline mosaicism for a novel missense variant p.Thr645Met located in the SNF2‐related ATP dependent helicase domain of CHD2 in 2 affected siblings with autism spectrum disorder.