De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype - Pena, Loren D.M.; Hempel, Maja; McLaughlin, Heather M.; Cho, Megan; Stong, Nicholas; Shuss, Christine M.; Burrage, Lindsay C.; Dhar, Shweta U.; Emrick, Lisa T.; Graham, Brett H.; Lalani, Seema R.; Lewis, Richard A.; et al. (American journal of human genetics, 2016)
Keywords: ASXL2; Child; Child, Preschool; developmental delay; Developmental Disabilities - genetics; Embryology; Exome - genetics; Eyebrows - abnormalities; Genes; Genotype & phenotype; glabellar nevus flammeus; Humans; Hypertelorism - genetics; Infant; Infant, Newborn; intellectual disability; macrocephaly; Male; Megalencephaly - genetics; Muscle Hypotonia - genetics; Phenotype; Proteins; Repressor Proteins - genetics; RNA, Messenger - metabolism; Syndrome; Transcription factors; whole-exome sequencing; developmental delay; macrocephaly; glabellar nevus flammeus; whole-exome sequencing; intellectual disability; ASXL2