1.
Clin Genet
; 92(6): 669-670, 2017 Dec.
Article
in English
| MEDLINE
| ID: mdl-28960266
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.