Expansion of the genotypic and phenotypic spectrum of CTCF‐related disorder guides clinical management: 43 new subjects and a comprehensive literature review - Valverde de Morales, Hannah Gabriela; Wang, Hsiao‐Lin V.; Garber, Kathryn; Cheng, Xiaodong; Corces, Victor G.; Li, Hong (American journal of medical genetics. Part A, 2023)
Keywords: Congenital defects; Craniofacial growth; CTCF; facial gestalt; gene; Genetic counseling; Genotype; Hereditary diseases; Humans; Intellectual disabilities; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Language Development Disorders - genetics; Literature reviews; Mutation; Neurodevelopmental disorders; Phenotype; variant; phenotype; variant; CTCF; facial gestalt; gene; genotype