The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome - van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; et al. (Genetics in medicine, 2019)
Keywords: Abnormalities, Multiple - genetics; Adolescent; Adult; Biomedical and Life Sciences; Biomedicine; Child; Child, Preschool; Chromosomal Proteins, Non-Histone - genetics; DNA-Binding Proteins - genetics; DNA-Binding Proteins - metabolism; Exome; Face - abnormalities; Female; Genetic Association Studies - methods; Genetic Variation - genetics; Hand Deformities, Congenital - genetics; Human Genetics; Humans; Infant; Infant, Newborn; Intellectual disabilities; Intellectual Disability - genetics; Laboratory Medicine; Male; Micrognathism - genetics; Middle Aged; Mutation; Neck - abnormalities; Penetrance; Transcription Factors - genetics; Transcription Factors - metabolism; Coffin–Siris syndrome; ARID1B; intellectual disability; bias