Lingyan, QiaoYusheng, LiuJuan, GeTang, Li2020-04-232020-04-232019-09Lingyan Qiao, Yusheng Liu, Juan Ge, Tang Li. Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome. Indian Pediatrics. 2019 Sep; 56(9): 792-7940974-75590019-6061http://imsear.searo.who.int/handle/123456789/199391Background:Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder.Case characteristics: A 26-day-old neonate presented with feeding difficulties, excessivesleeping, and hirsutism over forehead and lumbosacral skin. Outcome: Whole-exomesequencing identified a novel nonsensemutation. Message: We report a novel mutation ina Chinese neonate with Bainbridge-Ropers syndrome.HypersomniaMutationWhole-exome sequencingJournal ArticleIndiaMedical Department, Qingdao UniversityDepartment of Pediatric Endocrinology and Genetic Metabolic Diseases,Qingdao Women and Children’s HospitalDepartment of Pediatric Surgery, The Affiliated Hospital of Qingdao University;Qingdao, China