DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies - Ji, Jianling; Lee, Hane; Argiropoulos, Bob; Dorrani, Naghmeh; Mann, John; Martinez-Agosto, Julian A; Gomez-Ospina, Natalia; Gallant, Natalie; Bernstein, Jonathan A; Hudgins, Louanne; Slattery, Leah; Isidor, Bertrand; et al. (European journal of human genetics : EJHG, 2015)
Keywords: Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Ataxia; Chromosome 21; Chromosome Deletion; Down Syndrome - genetics; Down Syndrome - pathology; Down's syndrome; Dyrk Kinases; Facies; Female; Gait; Geffen, David; Genotypes; Haploinsufficiency; Humans; Intellectual disabilities; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Male; Microcephaly - genetics; Microcephaly - physiopathology; Microencephaly; Phenotype; Phenotypes; Phosphorylation; Polymorphism, Single Nucleotide; Protein Serine-Threonine Kinases - genetics; Protein-Tyrosine Kinases - genetics; Seizures; Speech; Tyrosine; Los Angeles California; United States--US; California