5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome - Bayat, Allan; Bayat, Michael; Broers, Chantal; Polstra, Abeltje M.; Zwijnenburg, Petra J. G.; Hjortshøj, Tina Duelund (American journal of medical genetics. Part A, 2021)
Keywords: 5q11.2 microdeletion syndrome; Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Anemia, Macrocytic - genetics; Anemia, Macrocytic - physiopathology; CHARGE syndrome; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 5 - genetics; Comparative Genomic Hybridization; Cytokine Receptor gp130 - genetics; developmental delay; Developmental Disabilities - genetics; Developmental Disabilities - physiopathology; DHX29; Facies; Heart Defects, Congenital - genetics; Heart Defects, Congenital - physiopathology; Humans; immunodeficiency; Infant; Infant, Newborn; Intellectual disabilities; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Interleukin 6; Learning Disabilities - genetics; Learning Disabilities - physiopathology; Male; Phenotype; RNA Helicases - genetics; shortest region of overlap; developmental delay; 5q11.2 microdeletion syndrome; immunodeficiency; DHX29; shortest region of overlap